(Just click the link below)

SS1 - Inform

SS2 - Newborn Screening

SS3 - Homocystinuria

SS4 - Nutrition and Dietetics

Program at a Glance

Program Overview

Session with Simultaneous Translation English-Spanish.

  • Sunday Sep 3, 2017

    Pre-Symposium Satellite Symposium:
    15:30 – 21:30 SS1 – INFORM – Part A

  • Monday Sep 4, 2017

    Assembly – Commercial Exhibition
    Pre-Symposium Satellite Symposia:
    15:00 – 18:00 Secretary Opening Hours for Registration/Collection of Material
    07:30 – 18:45 SS1 – INFORM – Part B
    08:00 – 18:45 SS2 – Newborn Screening
    08:00 – 18:00 SS3 – Homocystinuria
    14:00 – 17:30 SS4 – Nutrition & Dietetics


    16:00 – 18:00 SSIEM Council Meeting

  • Tuesday Sep 5, 2017

    06:00 – 19:00 Secretary Open for Registration/Collection of Materials
    06:00 – 12:30 Poster Assembly
    08:30 – 20:00 Poster Exhibition Opening Hours
    08:30 – 20:00 Commercial Exhibition Opening Hours

    07:15 – 08:45 Available for Business Meetings
    07:15 – 08:45 Sponsored Breakfast Symposia (Vitaflo)

    09:00 – 10:30 Pre-Congress Parallel Sessions (PC1, PC2, PC3, PC4)
    10:30 – 11:00 coffee break
    11:00 – 12:30 Pre-Congress Parallel Sessions (PC1, PC2, PC3, PC5)

    12:45 – 13:45 Available for Business Meetings
    12:45 – 13:45 Sponsored Lunch Symposia (Amicus, Biomarin, Sobi, Shire)
    12:45 – 13:45 Lunch & Posters


    14:00 – 16:00 Opening + Plenary Session (PL1)
    16:00 – 16:30 coffee break & Posters
    16:30 – 18:00 Plenary Session (PL2)

    18:00 – 20:00 Welcome Reception (open to all delegates, not part of scientific program)


    09:00 – 13:00 JIMD Editors Meeting
    09:30 – 12:30 MetabERN Meeting
    11:30 – 13:45 SIMD Board of Directors Meeting
    20:00 – 22:00 JIMD Communicating Editors Dinner

  • Wednesday Sep 6, 2017

    06:30 – 19:00 Secretary Open for Registration/Collection of Materials
    06:30 – 20:00 Poster Exhibition Opening Hours
    08:00 – 20:00 Commercial Exhibition Opening Hours

    07:15 – 08:45 Available for Business Meetings
    07:15 – 08:45 Sponsored Breakfast Symposia (Genzyme, BioMarin, Centogene, Nutricia)
    09:00 – 10:30 Plenary Session (PL3)
    10:30 – 11:00 coffee break & Posters
    11:00 – 12:30 Parallel Sessions (PA1, PA2, PA3, PA4)

    12:45 – 13:45 IOC Societies Business Meetings (SSIEM, SIMD, ASIEM, SLEIMPN)
    12:45 – 13:45 Lunch & Posters


    14:00 – 15:45 Parallel Sessions (PA5, PA6, PA7, PA8)
    15:45 – 16:15 Coffee Break & Posters
    16:15 – 17:45 Plenary Session (PL4)
    18:00 – 20:00 Attended Poster Session (with drinks and appetizers)


    07:15 – 08:45 IOC Meeting
    09:00 – 10:30 SSIEM–DG Meeting
    12:45 – 13:45 SSIEM Business Meeting
    12:45 – 13:45 SLEIMPN Business Meeting
    12:45 – 13:45 SIMD Business Meeting
    12:45 – 13:45 ASIEM Business Meeting

  • Thursday Sep 7, 2017

    06:30 – 13:00 Secretary Open for Registration/ Collection of Materials
    06:30 – 18:00 Poster Exhibition Opening Hours
    08:00 – 18:00 Commercial Exhibition Opening Hours

    07:15 – 08:45 Available for Business Meetings
    07:15 – 08:45 Sponsored Breakfast Symposia (Genzyme, Shire, Metabolon)
    07:15 – 08:45 Inform Symposium

    09:00 – 10:30 Parallel Sessions (PA9, PA10, PA11, PA12)
    10:30 – 11:00 coffee break & Posters
    11:00 – 12:30 Parallel Sessions (PA13, PA14, PA15, PA16)
    12:45 – 13:45 Available for Business Meetings
    12:45 – 13:45 Sponsored Lunch Symposia (Genzyme, Biomarin, Orphan Europe, Alexion - Recordati Rare Disease)
    12:45 – 13:45 Lunch & Posters


    14:00 – 15:30 Plenary Session (PL5)
    15:30 – 16:00 coffee break & Posters
    16:00 – 18:00 Poster Viewing

    20:00 – 00:00 Networking Evening (optional social activity)


    12:30 – 14:00 JIMD Communicating Editors Meeting
    16:00 – 17:30 Reserved for Meeting with Sponsors

  • Friday Sep 8, 2017

    08:00 – 18:00 Secretary Open for Registration/ Collection of Materials
    08:00 – 13:00 Poster Exhibition Opening Hours
    08:00 – 13:00 Commercial Exhibition Opening Hours
    13:00 – 18:00 Poster Dismounting
    13:00 – 18:00 Commercial Exhibition Disassembly


    09:00 – 10:30 Plenary Session (PL6)
    10:30 – 11:00 coffee break & Posters
    11:00 – 13:00 Plenary & Closing Session (PL7)
    13:00 – 13:30 Pick-up of Lunch Boxes
    13:30 – 18:00 Networking Afternoon Excursions (optional social activity)

  • Saturday Sep 9, 2017

    Commercial Exhibition Disassembly

Session with Simultaneous Translation English-Spanish.

Faculty Members


Orange County, USA - Dr. Abdenur is Division Chief of Metabolic Disorders and Director of the Metabolic Laboratory at CHOC Children's in Orange, California, USA. He is Associate Clinical Professor of Pediatrics at the University of California, Irvine and Program/ Training Director for Medical Biochemical/ Clinical Biochemical Genetics for the UCLA Intercampus Medical Genetics Training Program.Dr. Abdenur received his medical degree at the Universidad de Buenos Aires, Argentina. He trained in pediatrics at Hospital Pedro de Elizalde in Argentina; in pediatric endocrinology at North Shore Hospital, Cornell University, NY; in Biochemical Genetics at the University of Colorado, Denver and in Clinical Genetics at Mount Sinai School of Medicine, NY.His areas of interest are Diagnosis and Treatment of Inborn Errors of Metabolism with special interest in small molecules and mitochondrial diseases.

Clinical geneticist. Associate Professor at Medical School of Federal University of Bahia. Research interests: education, population genetics, and mucopolysaccharidosis.

Moeen Al-Sayed is Chairman of the Department of Medical Genetics at King Faisal Specialist Hospital and Research Centre in Riyadh, Kingdom of Saudi Arabia and Professor of Genetics at Al-Faisal University in Riyadh. Professor Al-Sayed is also the Director of the Genetic Counselling Service at King Faisal Specialist Hospital and Research Centre and MSc Genetic Counselling Programme at Al-Faisal University. He has established a Postgraduate Genetic Counselling Programme at King Faisal Specialist Hospital to train Saudi and Arab nationals and GCC nationals in this field and to promote this speciality across the Middle East. Professor Al-Sayed has been a principal investigator and co-investigator in over 24 research projects, including five multicentre trials approved by the US Food and Drug Administration related to the treatment of LSDs and a trial on treatment of Hypophosphatasia.

Hernán Amartino is a MD graduated from the Universidad de Buenos Aires, Argentina, specialized in Pediatric Neurology. He is the chief of the Child Neurology Department at Hospital Austral in Buenos Aires. He is also Associate Professor of Pediatrics and Director of Postgraduate Course of Medical Genetics and Inborn errors of Metabolism in Universidad Austral. Former president of the scientific committee of SLEIMPN. Dr Amartino was trained in the field of inborn errors of metabolism at the Laboratorio de Neuroquimica by Dr Nestor Chamoles in Buenos Aires. Currently he is working on clinical research for LSDs and IEM including new treatments for Fabry disease and intrathecal programs for MPS and MLD. He is also pioneer in LatinAmerica as PI in gene therapy trial for adrenoleukodysrophy (ALD-X). He is co-author of over 50 publications including book chapters and peer review journal articles.

Dr. Carla G. Asteggiano received her PhD degree in Science and a postdoctoral position in human genetic diseases from the National University of cordoba, Argentina. She is currently teaching in the School of medicine at the Catholic university of Cordoba, She has been a strong advocate for genetic metabolic diseases and working on the field of Congenital Disorder of Glycosylation (CDG) as a Scientific Reasearch at National Council for Scientific and Technological Research (CONICET) since 2004. Her currents projects include the study of biochemical and molecular basis of N- and O-glycosylations disorders and new approach in platelet glycoproteins involves in Ca homeostasis in patient with altered N-glycosylation pathways. She has been a member at the Ethics in Human Research Committiee (CIEIS) and the head of the CDG Research Group in CEMECO, Children Hospital. Her future purpose is to continue collaborating to increase the diagnosis of human glycosylation disorders in Latin America.

Dr. Baker is a professor in the Department of Pediatrics, and Co-Director in the Newborn Screening Laboratory at the University of Wisconsin School of Medicine and Public Health. Dr. Baker was trained in both biochemical and molecular genetics, obtaining a clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has almost 15 years of experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She is one of the leading scientists who made Wisconsin the first state in the nation to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. Dr. Baker is currently a member of the Advisory Committee on Heritable Disorders in Newborns and Children, co-chaired for the NewSTEPs Steering Committee, and a member of Molecular Subcommittee for APHL/CDC.

Guilherme Baldo has graduated as Pharmacist at the Federal University of Rio Grande do Sul (UFRGS) in 2005 and obtained a PhD degree in Biochemistry, also at UFRGS, in 2012. Since 2013 he is Assistant Professor at the Department of Physiology of UFRGS, and Technical Editor of the Journal of Inborn Errors of Metabolism and Screening. His research activites focuses on the pathogenesis of lysosomal disorders and development of new treatment for these conditions, especially gene therapy.

Luis Alejandro Barrera is MSc in Clinical Chemistry and PhD in Biochemistry. He has founded two research institutes and a clinic for the diagnosis, research and treatment of inborn errors of metabolism, in Colombia. Two times president of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, Member of the board of directors of ICORD (International Conference on Rare Diseases), also two times. He has led research in: epidemiology of IEM in Colombia; standardization and development of methods for the diagnosis of IEM; construction of vectors for gene therapy and expression of human recombinant enzymes in microorganism for the treatment of IEM. He was president of the III Latin American meeting that took place in Cartagena (2001) and the IX in Medellin (2013) respectively.

Michael Beck received his MD at the University of Frankfurt/Main in Germany in 1975. He was trained in Pediatrics at the Children's Hospital and trained in Genetics at the Institute of Human Genetics of the University of Frankfurt/Main. In 1993 he received the Professorship for Pediatrics, from 1993 to 2013 he was Senior Consultant at the Children`s Hospital of Mainz (Germany) and Head of the Department for Lysosomal Storage Disorders (Villa Metabolica). He performed studies in the biochemistry of skeletal dysplasias at the Institute of Biochemistry in Munster (Germany) and at the University of Houston (Texas). He was principal investigator in a great number of clinical trials and has organized many international conferences on lysosomal storage disorders. He has published more than 300 papers. His main research interests are rare metabolic and genetic disorders. Presently he is Professor Emeritus at the Institute of Human Genetics at the University of Mainz.

Senior Visiting Research Fellow at Kings College London. His laboratory is part of the Drug Delivery Group in the Pharmaceutical Sciences Division at Kings College, investigating the blood-brain barrier, in particular, drug delivery to the central nervous system (CNS) with a special emphasis on lysosomal storage disorders and other inherited neurometabolic diseases. He is author of a significant number of key peer-reviewed papers on blood-brain barrier (BBB) function and drug delivery to the CNS. He remains visiting Docent at Goethe University. He founded in 2006, with Prof. Maurizio Scarpa of the University of Padua, Italy, “The Brains for Brain Research Foundation” a European Task Force, composed of clinicians, scientists, family associations and Pharma, dedicated to the study and improving treatment of neurodegenerative lysosomal storage and related diseases. He is currently continuing research into Lysosomal Storage Disorders and related diseases and their treatment.

Michael J. Bennett Ph.D., FRCPath, DABCC, FACB, is Professor of Pathology and Laboratory Medicine at the University of Pennsylvania and Chief of Laboratory Medicine at Children's Hospital of Philadelphia. He holds the Evelyn Willing Bromley Endowed Chair and is currently President of AACC. Dr Bennett's research activities include the use of mass spectrometry in the investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He was amongst the first to describe the fatal clinical phenotype and subsequently the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase deficiency. Dr Bennett has published over 290 peer reviewed original articles in the field of pediatric clinical chemistry and biochemical genetics and sits on the editorial boards Clinical Chemistry, Journal of Inherited Metabolic Diseases, Molecular Genetics and Metabolism and Annals of Clinical Biochemistry.

Dr. Susan Berry is a medical genetics physician. She attended medical school at the University of Kansas and did her residency in pediatrics and fellowship in medical genetics at the University of Minnesota. Dr. Berry is Division Director for Genetics and Metabolism in the Department of Pediatrics at the University of Minnesota. She is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics and Genomics. She is also a member of the Board of Directors for the Society for Inherited Metabolic Disorders, Co-Chair of the Steering Committee for the Newborn Screening Translational Research Network, a member of the Council on Genetics for the American Academy of Pediatrics, and a member of the Minnesota Department of Health Newborn Screening Advisory Committee. She has a specific research interest in long-term follow-up after newborn screening.

Dr Bhattacharya is a paediatrician trained in UK. Metabolic training was at Great Ormond Street Hospital for Children with adult experience at The Charles Dent Metabolic Unit, London and fellowship in Sydney. He obtained a research MD in clinical nutrition for work on glycogen storage disease from University College London. His work also led to a new carbohydrate therapy for GSD I being developed and marketed. He moved to Australia 2008, where he is now practicing as a paediatric metabolic physician continuing clinical research projects in several inborn errors of metabolism being principal investigator for several clinical trials.

Chief of the Maternal and Child Department, and the Pediatrics and Neonatology Unit at the Hospital Guglielmo da Saliceto in Piacenza, Italy. Head of the Emilia-Romagna Regional Clinical Referral Center for Inborn Errors of Metabolism. Research interests include neonatal care, newborn screening, nutrition, and public health.

Professor Nenad Blau was a head of the laboratory for the diagnosis of tetrahydrobiopterin and neurotransmitter disorders at the University Children's Hospital in Zürich, Switzerland. He is a senior lecturer in biochemistry and metabolic disorders at the University of Zürich and author of more than 400 research publications, including such standards as "Physician's Guide to the Laboratory Diagnosis of Metabolic Disease", "Physician's Guide to the Treatment and Follow-up of Metabolic Disease", and "Laboratory Guide to the Methods in Biochemical Genetics". For his research in the field of tetrahydrobiopterin and phenylketonuria he received in 2001 the Horst­ Bickel-Award, in 2005 the Gowland Hopkins Award, and in 2011 he was honored by Asbjørn Følling award. Professor Blau is currently Senior Consultant in Biochemical Genetics at the Children?s Hospital in Heidelberg, Germany and director of the BIOPKU, Switzerland.

I am currently national laboratory lead within the UK for newborn screening on behalf of Public Health England. I am also Clinical director for Pharmacy, Diagnostics and Genetics at Sheffield Children's Hospital. My research interests include communications with parents, next generation sequencing applied within screening and the continued development and use of EQA schemes to support diagnosis in metabolic disease and screening.

Biochemist and Doctor in Biochemistry. National University of La Plata - Argentina. Director of Newborn Screening Laboratory and Chief of the External Quality Assurance Scheme for Newborn Screening. Fundación Bioquímica Argentina. Professor of "Pathology Biochemistry" and "Newborn Screening for Congenital Diseases" at the National University of La Plata - Argentina. Chief of Blood Bank Laboratory at Hemotherapy Institute of the Buenos Aires Province. La Plata. Robert Guthrie Award 2015. International Society for Neonatal Screening.- Member of the Editorial Board of the International Journal of Neonatal Screening - IJNS.

PhD in Medicine from the University of Amsterdam, is an Assistant Professor and heads the Neurolipid Biology group at IBMC-i3S, Porto, Portugal. The research aims at understanding how lipid synthesis and catabolism govern biological and functional processes in the healthy nervous tissue and in neurometabolic disorders. Using mouse models, we combine in vitro and in vivo studies to integrate physiological cell processes with diseases states. We also develop and validate new therapeutic pre-clinical approaches based on understanding the cellular and biochemical mechanisms behind the pathology. The lab has a particular interest in ether-phospholipids (plasmalogens) from previous work on the cloning of the gene causing RCDP type 1, the characterization of the mutational spectrum, the generation of a mouse model for RCDP, and the first pre-clinical evaluation of a candidate therapy. Recent work has focused on understating the role of plasmalogens in neuron and glial biology.

MD. Pediatric Neurologist: Chief of the Pediatric Neurology Fellowship Program. University of Valparaiso, Chile; Chief of the Inborn Errors of Metabolism group at the Institute of Nutrition and Food Technology (INTA), University of Chile; President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN)

MD, Phd.Head of Neuropediatric Service in Hospital Universitary Sant Joan de Deu de Barcelona from 2001, professor of Pediatrics in the University of Barcelona and the coordinator of the PKU Unit in the same Hospital.Has published more than 200 papers in national and international scientific journals with impact factor and two Neuropediatric books: Neurologia para Pediatras, Ed Panamericana 2011; Trastornos paroxisticos no epilépticos, Ed Viguera 2014.He has been a participant in 31 Research Projects. His areas of research interest include neonatal seizures, epilepsy in inborn errors of metabolism; inborn errors of metabolism (i.e. phenylketonuria, glutaric aciduria, and cerebral creatine deficiency), and others (i.e., alternating hemiplegia in infancy). He is past-President of the Spanish Neuropediatric Society, European Society of Pediatric Neurology, and AINP President ( Iberamerican Academy of Pediatric Neurology), SSIEM Council Member ( 2006-14), Co-chairman of the ICIEM meeting in Barcelona (setember 2013) , member of the ICNA board ( 2014-)

I am research professor of Psychiatry, Pediatrics and Human Genetics at UCLA in Los Angeles, CA. I am a physician and medical geneticist specializing in the field of inborn errors of metabolism. My particular area of interest is urea cycle defects, especially arginase 1 deficiency. My laboratory was responsible for some of the earliest descriptions of the condition and its effective treatment diet and nitrogen scavengers. We were one of two labs that cloned the genes, described the earliest mutations and made the knockout mouse for the condition. The lab now run by one of my colleagues has developed effective gene therapy for arginase 1 deficiency in the mouse and using selective gene expression and tissue specific gene inactivation is exploring the pathogenesis of the clinical manifestations and their treatment.

Ana Chiesa. MD PhD. Pediatric Endocrinologist. Staff Member of the Endocrinology Division of the Buenos Aires Children Hospital R. Gutierrez . Clinical Researcher at CONICET. CEDIE "Dr Cesar Bergada" and of the Buenos Aires City Goverment. Director of the Neonatal screening program at Fundacion de Endocrinologia infantil (FEI). Medical coordinator of the Buenos Aires Government neonatal screening program.

John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, and Director of the Genetics Research Theme, at the Murdoch Childrens Research Institute in Melbourne, Australia. He is a University of Sydney graduate, and has qualifications in paediatrics, medical genetics and genetic pathology. His postdoctoral training in metabolic disorders was at the Hospital for Sick Children, Toronto (1990 - 1992). He returned to Sydney and was the Director of the Western Sydney Genetics Program at the Children's Hospital at Westmead until 2015. He has an active laboratory-based Rett syndrome and mitochondrial disorders research program, and has a major research interest in the application of next generation sequencing (NGS) technologies for disease gene discovery in rare Mendelian disorders, and is the co-lead of the Australian Genomics Health Alliance, whose focus is to bring NGS diagnostics into mainstream clinical practice in Australia.

Lorne Clarke is a professor of medical genetics at the University of British Columbia and is a clinical and biochemical geneticist in the Provincial Medical Genetics Program where he is the medical director. He serves as a scientific advisor to many biotechnology corporations involved in the development of rare disease therapeutics as well as rare disease philanthropic organizations and disease registries. He has been in the field of lysosomal storage diseases for over 25 years and has published over 60 research papers in this area. His group was one of the first to describe mutations underlying MPS I and was the first group to develop a mouse model of MPS I. His center was one of the largest centers involved in the Phase III/IV trial of ERT for MPS I. His group has recently produced mouse models of Gaucher disease as well as Sandhoff disease.

London, UK - Prof Peter Clayton studied medicine at King`s College, Cambridge and University College Hospital, London. He trained in academic paediatrics in London including at Great Ormond Street Hospital / Institute of Child Health where he undertook his MD thesis on analysis of bile acids by GC-MS. He was appointed Metabolic Consultant at Great Ormond Street in 1987 and Professor of Paediatric Metabolic Disease and Hepatology in the UCL Institute of Child Health in 1998. His research interests include inborn errors of bile acid and sterol metabolism and inborn errors affecting vitamin B6 metabolism. He is currently Chairman of the SSIEM.

Life science division, Saclay Institute of Biology and Technology. Department of pharmacology and immunoanalysis. CEA-Saclay, Gif-sur-Yvette, France He obtained his PhD in Bioorganic Chemistry (Univ. Pierre et Marie Curie, Paris 6, 2007). He joined a branch of National institute of Health (NIH/NIDA) at Baltimore (MD, USA) during 2 years (2008-2010) to develop lipidomics and Mass spectrometry imaging in Amina Woods’s laboratory. He joined the Laboratory for Drug Metabolism Studies (CEALEMM) in 2011 to develop qualitative and quantitative methods using LC-MS in lipidomics in biological fluids and participate in metabolomics project in the field of neurosciences. He is also interested in biostastistical methods for the treatment of omics data.

Prof. Veronica Cornejo Espinoza is a Nutritionist and holds a Master Degree in Nutrition at the University of Chile and is also a specialist in metabolic diseases at the Children's Hospital of Los Angeles, California USA.Currently, she is Director of the Institute of Nutrition and Food Technology, INTA at the University of Chile. From 2013 to 2014 she was Head of Human Nutrition Academic Unit at INTA and Head of Genetics and Metabolic Diseases Research Laboratory at INTA from 2008 to 2014. Since 1995 she served as an advisor for the National Program of Neonatal Phenylketonuria and Congenital Hypothryroidism of the Chilean Ministry of Health. She also participates as an associate editor of the Journal of Inborn Errors of Metabolism and Screening and the Chilean Journal of Nutrition. She authored of more than 60 national and international publications and more than 70 book chapters.

MSc in Medicine 1999, MD 2001, Specialization in Pediatrics 2010, Specialization in Inborn Errors of Metabolism 2013. PhD thesis: MCAD deficiency, clinical and laboratory studies, University of Groningen, 2007. Research specialization: Inborn errors of metabolism, neonatal screening, hepatic glycogen storage diseases, medium-chain acyl-CoA dehydrogenase deficientie (MCADD), multiple acyl-CoA dehydrogenase deficientie (MADD).

PhD, MD, is Dean for Genetics & Genomic Medicine, Professor & Chairman Emeritus, Department of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai. His research includes lysosomal storage diseases (LSDs) the inherited porphyrias, in particular, their treatment. His LSD basic clinical research focuses on Fabry, Gaucher, Niemann-Pick A/B, Schindler diseases. His laboratory developed ERT for Fabry Niemann-Pick diseases, pharmacologic chaperone therapy for Fabry disease, was co-founder of Amicus Therapeutics. He has published 740 research papers, chapters, nine edited books. Current efforts focus on gene therapy for Fabry disease using gene editing. His laboratory developed an RNAi therapy for the acute porphyrias, now in clinical trials. He is an elected Fellow of the American Academy for the Advancement of Science, an elected member of the Academy of Medicine, National Academies of Sciences, Engineering & Medicine.

David Dimmock is a nationally-renowned expert on the field of clinical genomic medicine and joined the Rady Children's Institute for Genomic Medicine, located in San Diego, CA, in June 2016. He is the clinician primarily responsible for the first use of exome sequencing to change the medical management of a child. This case was the subject of Pulitzer Prize winning articles and the book, One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine. In 2010, he was a leader of the team that deployed the first clinical end-to-end whole genome sequencing test. This solution included patient counselling and consent, clinical laboratory testing, data analysis, data return. Before joining Rady Children's, practice focused on the diagnosis of heritable disorders in children and adults and the long term care of patients with mitochondrial and metabolic disorders. He has been the principal investigator for multiple industry sponsored studies evaluating novel therapeutics for these.

Carlo Dionisi-Vici - Rome, Italy, obtained his MD degree and his residency in Paediatrics at the University "la Sapienza" in Rome. He is currently head of the Division of Metabolic Diseases, Department of Paediatric Medicine, at the Bambino Gesù Children's Research Hospital in Rome, Italy. He is member of evaluation programs on newborn screening in Italy. His research concerns organic acidemias, urea cycle defects, homocystinurias, management of metabolic emergencies, mitochondrial and lysosomal disorders and hyperinsulinism. He has conducted translational research for the development of guidelines in inborn errors of metabolism and applied new technologies to improve diagnosis, prevention and treatment of metabolic diseases.

Currently Position; Post Doctoral Fellow at the University of North Texas Health Science Center (Fort Worth) Doctorate of Phiolosophy from the University of North Texas (Denton) Master of Science from UT Southwestern (Dallas) Bachelor of Science from Texas Tech University (Lubbock)

Areeg El-Gharbawy, MD completed her medical education, residency training, MSc and DSc degrees in Internal Medicine at Cairo University, Egypt before moving to the United States. In the USA, she completed an Internal Medicine- Endocrinology clinical investigator track in Milwaukee Wisconsin, followed by medical genetics training in clinical genetics at NIH, training in skeletal dysplasia and clinical biochemical genetics at UCLA combined program, followed by clinical biochemical genetics training with research training at Duke University hospital. She is board-certified in Internal Medicine, Endocrinology diabetes and metabolism, clinical genetics and biochemical genetics. She currently holds a faculty position in Pediatrics, Medical genetics at the CHP of UPMC and University of Pittsburgh school of medicine. Her current research interests involve energy disorders including FAODs, Glycogen storage disease, as well as optimizing treatment of rare diseases including small molecule relat

Kumamoto, Japan, Dr. Fumio Endo received his M.D. and Ph.D. from Kumamoto University in Kumamoto, Japan. After he received PhD, he went to Emory University in Atlanta, Georgia, USA where he worked with Skip Elsas at the Department of Pediatrics, Medical and Biochemical Genetics. After Dr Endo came back to Japan, he became a faculty member of Department of Pediatrics at Kumamoto University. Currently, Dr. Endo is Professor and Chairman of Department of Pediatrics at Kumamoto University. He worked as the Chairman of Japan Society of Inherited Metabolic Diseases from 2007 to 2013. He is one of the founders of Asian Society for Inherited Metabolic Diseases, and is serving as a Chairman of the society since 2010.

After receiving her medical degree in Colombia in 1986, Dr. Maria Luisa Escolar travelled to the United States to complete a Master's of Science degree in nutrition at Columbia University in New York. She then went on to complete a residency in pediatrics in 1993 and a fellowship in Child Development and Behavioral Pediatrics at New York Hospital Cornell Medical Center. In 2000, while practicing at Duke School of Medicine, Dr. Escolar encountered a patient with Krabbe disease. Inspired by the experience, she soon after founded and became Director of the Study of Neurodevelopment in Rare Disorders Program (NDRD). In 2011, she relocated the NDRD to the University of Pittsburgh, where she was appointed as an associate professor. Today her research focuses on developing better methods to understand the impact of brain abnormalities on behavioral function. She has published more than 60 papers in medical journals, including two articles papers in the New England Journal Medicine.

Prof. Eto is currently a Director of Advanced Clinical Research Center, Institute of Neurological Diseases and Professor Emeritus , Jikei University School of Medicine. He served as a Professor and chairman, Department of Pediatrics, Director of DNA Institute for Medical Science at the Jikei University School of Medicine. Prof. Eto studied for more than 40 years in the field of lysosomal storage diseases and has left many achievements. He also served as a President of Japan Pediatric Society for four years and also as a President of Japan Society of Inherited Metabolic Disorders for 7 years. Internationally, he also serves as a Standing Committee Member of International Pediatric Association for 6 years and as a President of the 10th International Congress of Inborn Error of Metabolism, 2006, Tokyo. Currently, he has studying about clinical and basic research in LSD and published more than 350 English peer reviewed papers.

Fatih Ezgü is a Professor of Pediatrics and Head of the Department of Pediatric Genetics at Gazi University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey. He is also a faculty member of the Department of Pediatric Metabolic Disorders at the same institution. After obtaining his medical degree from Ankara University, Ankara, Turkey in 1993, Professor Ezgü completed his pediatric residency as well as inborn metabolic diseases subspecialty training at Gazi University, Ankara. Dr. Ezgu also completed Clinical Genetics Residency training as well as a Research Fellowship for molecular genetics at Intercampus Medical Genetics Training Program in University of California, Los Angeles. In 2007, Professor Ezgü returned to Gazi University as Associate Professor of Pediatrics before assuming his current positions in 2010/11. Professor Ezgü has worked in the field of inborn metabolic and genetic diseases for 19 years and has published over 70 articles in peer-reviewed journals. His primary interests are lysosomal disorders, mitochondrial disorders, clinical dysmorphology and genetic and metabolic bone disease as well as novel treatments for metabolic disorders.

Dr Janice Fletcher is a paediatrician, geneticist and genetic pathologist with specialist training in inborn errors of metabolism. She is the Australian communicating member for the Society for the Study of Inborn Errors of Metabolism (UK) and Secretary of the Organising Committee for the International Congress of IEM. Her interests include achieving quality outcomes in newborn screening and inborn errors of metabolism, training and the interface between laboratory and clinician.

Rio de Janeiro, BrazilMD, specialized in Pediatrics and Clinical Pathology, holds an MBA from Coppead Institute of the Federal University of Rio de Janeiro. Former president and current board member of the Brazilian Society of Clinical Pathology (SBPC), founding member and current president of the Brazilian Society of Neonatal Screening and Inborn Errors of Metabolism. Founder and CEO of DLE Laboratories focused on rare diseases, human genetics and expanded newborn screening.

Born and educated, Manchester U.K, study and Ph.D. Manchester. Post -doc with George Komrower (Manchester) then Leon Rosenberg to 1977(Yale). Employed as head Biochemist, Willink Biochemical Genetics Unit, Manchester to 1990 then head of labs at Basel University Children`s Hospital. Worked on diagnostics and Research in various IEMs especially homocysteine, folate and vitamin B12 disorders. Organising commitees and Presidents, SSIEM, ERNDIM, Swiss Group for IEM. Since official retirement in 2011 engaged in ERNDIM, Eurogentest, SSIEM academy and Research at the University Children`s Hospital Zürich. Outside interests, family, culture, hiking and supporting Manchester City.

Education, Professional experience:Graduate School of Medicine, Gifu University (1987-1990, PhD); Senior Research Associate at Department of Pediatrics, Gifu University School of Medicine (1993-2000); Visiting Scientist, Cancer and Cell Biology, Queensland Instituteof Medical Research, Australia (2000-2001); Assistant professor at Department of Pediatrics, Gifu University School of Medicine (2002-2004); Associate Professor at Department of Pediatrics, Graduate School of Medicine, Gifu University (2004-2007); Professor, Medical Information Sciences Division, United Graduate School of Drug Discovery and Medical Information Sciences, Gifu University (2007-2013); Professor, Department of Pediatrics, Graduate School of Medicine, Gifu University /Membership of academic societies:SSIEM, JSIMD (executive board members) JPS?executive board members "JSMS" executive board member's Award: Promotion Award (JSIMD 1993) ; Promotion Award (Japanese Society of Human Genetics1998.

Dr. Gonzalez received her degree in Medicine from the University of Aleppo School of Medicine in Aleppo, Syria. She completed her Internal Medicine residency at the State University of New York at Buffalo, Buffalo, NY and her residency in Medical Genetics and fellowship in Medical Biochemical Genetics at University of Pittsburgh medical center, Pittsburgh, PA. Before assuming her current position in Pittsburgh, she had 2 years of Post Doctoral Research Associate position at the University of Pittsburgh. Dr. Gonzalez turned her attention to the burden of genetic disease in the Amish of Mercer County in Western Pennsylvania, starting with the recognition of MELAS common mutation in the community. She subsequently has established a research registry project for the Plain community in Western Pennsylvania, and begun a next gene sequencing to develop population based genomic risk assessment especially in the individual communities and provide them with better genetic and metabolic care.

Eric Goetzman, PhD is an Associate Professor of Pediatrics at the University of Pittsburgh, Pittsburgh, PA USA. His laboratory studies mitochondrial function and fatty acid oxidation (FAO), the pathway by which fatty acids are broken down for energy. Mutations in the FAO genes are among the most prevalent inborn errors of metabolism. Recently, it was discovered that most if not all FAO enzymes are subject to post-translational modification including lysine acetylation and lysine succinylation. There are three mitochondrial sirtuin deacylases (SIRT3, SIRT4, SIRT5), which are believed to reverse these modifications. The lab's current research focuses on the functional effects of lysine acetylation and succinylation on the FAO pathway and the role the sirtuins play in regulating metabolism. Other lab interests include the role of fatty acid metabolism during kidney injury and in liver cancers.

MD, PhD, is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS), Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America, and member of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. He is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP) and of the Latin American School of Human and Medical Genetics (ELAG), is the Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, and Full Member of the Brazilian Academy of Sciences. Prof. Giugliani's main interests are concentrated in the field of the lysosomal storage diseases, with many contributions about screening, diagnosis, natural history and innovative therapies of these conditions. He is author of several book chapters, and of over 400 papers published in peer-reviewed journals.

After obtaining a PhD in organic chemistry, Professor Gregersen worked as a clinical biochemist in Copenhagen and later in Aarhus, where he directed a diagnostics laboratory for Inborn Errors of Metabolism. Since 1974 he has participated in the development of the field of mitochondrial Fatty Acid Oxidation (FAO) deficiencies, including MCADD, SCADD, VLCADD and MADD. After the discoveries in the 1990s of the gene defects in these and many other disorders, his interest has been focused on the consequences of gene variations and other damages at the protein level as well as for the survival and death of the cells carrying the defects. The focus has been cell biological studies of mitochondrial dysfunction and oxidative stress, which is either a cause or a consequence involved in all diseases, including the FAO defects and other mitochondrial disorders. An important aim is to develop protein and other biochemical biomarker profiles to determine the balance between survival and death mecha.

Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center. Attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system.

Dr Yamina Hamel received her Ph.D in immunology from Paris VI University in the lab of Pr Alain Fischer in Necker Hospital . Then, she moved to Seattle to pursue her post-doctoral studies in the lab of Pr Phil Greenberg at the University of Washington. She joined the lab of pr Pascale de Lonlay at Imagine institute, where she studies inflammation and mitochondrial dynamics and its importance in rhabdomyolysis.

Johannes Häberle, MD, is a trained pediatrician, neonatologist, intensivist and metabolic specialist working at the University Children's Hospital Zurich. He has a longstanding expertise in the diagnosis and management of defects in ureagenesis. He is co-founder and executive and scientific board member of the European Registry and Network for Intoxication Type Metabolic Disorders (EIMD) and of the Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG); he is head of the working group for development of European Guidelines for the Diagnosis and Management of Urea Cycle Disorders; he is council member of SSIEM (Society for the Study of Inborn Errors of Metabolism) and member of ETAC (European Training Academy of SSIEM).

Paul R. Harmatz, MD, is Associate in Gastroenterology at UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA. He received his BA from Stanford University and MD from Dartmouth Medical School, Hanover, NH and completed his internship and residency training in Pediatrics at Harbor-UCLA Medical Center, Torrance, CA. Following a research fellowship in Pediatric Gastroenterology and Nutrition at Massachusetts General Hospital, Boston, MA, he remained in Boston until 1992 as faculty member in Pediatrics at Harvard Medical School. During the last 17 years, Dr. Harmatz has participated in clinical trials in patients with mucopolysaccharidosis (MPS) I, II, IIIb, IVA, VI, and VII and has managed clinical care for MPS patients living in northern California. He has written over 200 original scientific articles, book chapters, and abstracts on gastrointestinal immunophysiology, iron overload,

Chief of the Neuromuscular Division, Co-Director of the CUMC Muscular Dystrophy Association clinic, and Director of the H. Houston Merritt Center for Muscular Dystrophy and Related Diseases. He evaluated patients with myopathies and other neuromuscular disorders. His research focuses on mitochondrial diseases and genetic myopathies. Together with Co-Principal Investigators, Drs. Salvatore DiMauro and J.L.P (Seamus) Thompson, Dr. Hirano is co-directing the North American Mitochondrial Disease Consortium (NAMDC). He serves on the NIH Therapeutic Approaches to Genetic Diseases (TAG) study section, Medical Advisory Committee (MAC) of the Muscular Dystrophy Association, and Scientific Advisory Board of the United Mitochondrial Disease Foundation.

Dafne DG Horovitz is a clinical geneticist at the National Institute for Women, Children and Adolescent Health Fernandes Figueira/Fiocruz in Rio de Janeiro, Brazil. Her work involves genetic counseling, birth defects, prenatal diagnosis, chromosomal abnormalities, new treatments for genetic diseases and public health policies in genetics. Dr. Horovitz coordinates the medical residency program for Medical Genetics and is a professor in the post-graduation programs of Public Health and Applied Research. She has been involved in the treatment of lysosomal storage disorders for the past 12 years, has implemented and coordinates the hospital's enzyme replacement therapy unit. Dr. Horovitz is vice-president of the Brazilian Society of Medical Genetics and a consulting member of the Brazilian Ministry of Health for the special policy on rare diseases. She has has published and collaborated in research on medical genetics, lysosomal storage disorders and public health.

M.D. R. Rodney Howell, M. D. is Professor of Pediatrics and Chairman Emeritus, and Member of the Hussman Institute for Human Genomics at the Miller School of Medicine of the University of Miami. He was recognized in 2007 with the Lifetime Achievement Award from the Duke University Medical Alumni Association and with the Lifetime Achievement Award of the American College of Medical Genetics Foundation in 2012. To commemorate the 30th anniversary of the Federal Rare Disease Act, he was named one of the 30 Rare Disease Heroes by the U. S. FDA. Dr. Howell was the Founding Chair of the Secretary's Advisory Committee of Heritable Disorders in Newborns and Children, the congressionally-mandated Committee that advises the Secretary of HHS on genetic testing in children. Dr. Howell is also the Chairman of the Muscular Dystrophy Association Board of Directors. He was elected President of the International Society of Neonatal Screening in 2016.

He completed his medical and PhD degrees at National Taiwan University, and completed his residency at NTUH. He has done fellowship at the Department of Genetics at Johns Hopkins University, and was also a Visiting Scientist at the Department of Medical Genetics at the Mayo Clinic. Leads his group setting up the Newborn Screening Program for Pompe Disease and the gene therapy for aromatic l-amino acid decarboxylase deficiency clinical trial which both are world-leading programs. Research interests: innovative diagnosis and treatment for human genetic diseases. He is the former director of the Taiwan Newborn Screening Laboratory at NTUH.

Isabel Ibarra is biochemistry in the Laboratory of Inborn Errors of Metabolisms in Mexico City, academic of the National Autonomous University of Mexico, and holds a Master degree in Biochemical Sciences. She has been responsible for more than 20 years for the diagnosis an biochemical follow up of patient with inborn errors of intermediary metabolism (organic acidurias and aminoacidopathies), she is member of the Board of Directors of the Latin American Society of Innate Errors of Metabolism and Neonatal Screening.

1981: Graduate The Jikei University School of Medicine; 1989-1992: Visiting Assistant Professor, Department of Pediatrics, Georgetown University, Washington D.C., USA; 1996: Assistant Professor, Department of Pediatrics, The Jikei University School of Medicine; 2002: Associate Professor, Department of Pediatrics, The Jikei University School of Medicine; 2008: Executive Chairman and Professor, Department of Pediatrics, The Jikei University School of Medicine; - Academic Position: Chairman of the Board of Directors, Japanese Society for Inherited Metabolic Disease (JSIMD); Board of Director, Japan Pediatric Society (JPS); Honorary Member, American Pediatric Society (APS); Councilor, The Japanese Society of Child Neurology; Councilor, The Japanese Society for Gene Diagnosis and Therapy.

Anita Inwood has been a paediatric nurse for 26 years and working as the senior nurse in metabolic medicine for the last 14yrs. She qualified as a Metabolic Nurse Practitioner (NP) through the University of Queensland in 2015. She has been an executive committee member of the Australasian Society of Inborn Errors of Metabolism (ASIEM) since 2005 and is currently the Chairperson. She won a Churchill Fellowship in 2012 and gained the opportunity to work in the United Kingdom with a focus on lysosomal storage disease and transition. Based on that experience she led the formation of the Queensland Lifespan Metabolic Medicine Service. Anita's clinical responsibility is the management of children with phenylketonuria, fatty acid oxidation disorders and other causes of hypoglycaemia. Her main research interest has been in the mucopolysaccharidoses.


Associate Professor of Clinical Pediatrics and Inborn errors of metabolism at the American University of Beirut, Lebanon. Trained at Necker- Enfants Malades Hospital in Paris- France, 20 years ago with Pr. Jean Marie Saudubray. Established the first Inherited Metabolic Diseases Program in Lebanon, at the American University of Beirut Medical Center. President of the Lebanese National Registry for Rare and Metabolic diseases. Author of many publications in the field of inborn errors of metabolism. Research interests: neonatal screening, mitochondrial diseases, lysosomal disorders, diagnosis and outcome of inherited metabolic disorders in developing countries.

Clara van Karnebeek, MD PhD is a principle investigator and pediatrician-biochemical geneticist at the Academic Medical Centre, Amsterdam NL, and an affiliate Associate Professor, University of British Columbia Vancouver CA. Clara's research is dedicated to promoting early diagnosis and treatment of neurometabolic diseases in intellectual developmental disorder patients. She holds major research grants and her international TIDEX team integrates genomic and metabolomics technologies to unravel neurometabolic phenotypes, discovering novel genetic conditions and changing management. She focuses on digital apps, pyridoxine-dependent epilepsy and phenotypic modifiers of neurodegenerative disease.She published over 90 peer-reviewed journal articles, multiple clinical guidelines and several chapters in neurology textbooks. Her contributions to research and clinical care have been recognized ao by the Canadian Organization for Rare Diseases, and Institutes for Health Research.

Stephan Kemp is an associate professor and Principal Investigator at the Department of Genetic Metabolic Diseases / Pediatrics at the Academic Medical Center (AMC), University of Amsterdam, the Netherlands. Dr. Kemp was trained as a translational researcher at Johns Hopkins University/ Kennedy Krieger Institute, Baltimore, Maryland, USA and obtained his PhD in 1999 at the University of Amsterdam. He has more >20 years of experience with adrenoleukodystrophy research and published >60 papers and book chapters on adrenoleukodystrophy. He is the founder and editor of the ALD database (, chairman of the European Adrenomyeloneuropathy board, scientific advisor of the Dutch ALD patient organization and the Stop ALD Foundation and a member of the board of directors of ALD Connect. In 2015, he received the AMC Societal Impact Award (ASIA). His research focuses on lipid metabolism and neurotoxicity.

Prof. Andrés Klein's work focusses on the identification of modifier genes of biological processes and pathologies. Recently he has developed novel models of Gaucher disease (GD) by taking advantage of different genetic backgrounds of mice. This strategy led to the discovery of a potential therapy for neuropathic GD. Andrés Klein received his PhD in Cell Biology at the Pontificia Universidad Católica de Chile where he studied cell death mechanisms involved in Niemann-Pick type C (NPC) brain degeneration. He did a postdoc at Stanford University followed by a second postdoc at the Weizmann Institute of Science. Dr. Klein has received several awards including the Chilean young innovator prize by MIT technology reviews and he was selected as one of the top 100 young Chilean leaders of 2013. After working for a couple of years at TIGEM in Italy Dr. Klein has joined the Centre for Genetics and Genomics at the Universidad del Desarrollo in Chile, where he holds a Professorship in Genetics.

Pediatric Neurologist assistant at Pediatric Neurology Service of Hospital das Clínicas at University of Sao Paulo School of Medicine and since 1995 he is supervisor of Pediatric Neurology ward. He is also coordinator of Neurogenetics and Neurometabolic outpatient services. He has done a post-doctoral training in Neurogenetics at Johns Hopkins University / Kennedy-Krieger Institute (Baltimore, Md, EUA) from 1992 to 1995. In 2002, he was a visiting professor at Mayo Clinic Biochemical Genetics Laboratory. Since 2013, he is Associate-Professor at Department of Neurology of University of Sao Paulo School of Medicine and since 2002, he is associate researcher at Center for Human Genome Research of Biosciences Institute. For 15 years (1997-2012) he was medical advisor in Inborn Errors of Metabolism and Molecular Biology at Fleury Group. He is partner and share-holder of Mendelics Genomic Analysis, a company dedicated to next generation sequencing for both clinical and research use.

Prof. Dr Stefan Kölker, MD, is Head of the Division of Child Neurology and Metabolic Medicine at the Centre for Pediatric and Adolescent Medicine at the University of Heidelberg. He is coordinator of multi-centre studies on organic acidurias and chairman of an international guideline development group (glutaric aciduria type I). In addition to his clinical and diagnostic expertise, he has a long-standing experience in basic research focusing on organic acidurias and energy metabolism. He receives grants from the European Union, German Research Community (DFG), Ministry of Education and Science (BMBF). He is coordinator of the EU-funded project "E-IMD" and his team manage patient registries for the consortia "E-HOD" (homocystinurias and (re-)methylation disorders) and "iNTD" (neurotransmitter-related disorders), extending the disease panel to 47 IMDs. He is vice-coordinator and subnetwork coordinator of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).

Graduated from the School of General Medicine, Charles University in Prague in 1985. Since his graduation he has been working in the Institute of Inherited Metabolic Diseases and he specialized in clinical biochemistry and medical genetics, in 2012 he became the full Professor of Medical Genetics. His main interests are genetic, biochemical, clinical, epidemiological and ethical aspects of inherited metabolic disorders with a special interest in disorders of homocysteine and B-vitamins metabolism including cystathionine beta-synthase deficiency. V.Kozich is also involved in organization of neonatal screening in the Czech Republic and serves as a Chairman of the national Coordination Center on Neonatal Screening in the Czech Republic. He is an author of over 100 publications in peer reviewed international journals and of several chapters in books; he has been an invited speaker at various international conferences.

Dr. Kozicz completed his medical studies in 1990 at the University of Pecs, in Hungary, he received full training in gross anatomy, histology and embryology. Dr. Kozicz obtained his PhD degree in Neurosciences at the University of Pecs. Dr Kozicz was a post-doc fellow in the laboratory of Prof. Dr. Akira Arimura at Tulane University in New Orleans, USA. In 2013 he was appointed as chair of Department of Anatomy at Radboud university medical center, Nijmegen, the Netherlands. The Kozicz lab focuses mainly on mitochondria and energy metabolism and the impact of mitochondrial dysfunction on structural and functional correlates of stress-related plasticity. Dr Kozicz's group studies both preclinical models and human patients to ultimately create the scientific groundwork for therapeutic interventions to treat stress-related disorders such as anxiety and depression.

Guilhian Leipnitz, graduated in Pharmacy at Universidade Federal do Rio Grande do Sul (UFRGS), Adjunct Professor of Biochemistry, Department of Biochemistry, Brazil, supervisor of MSc and PhD students. PhD degree in Biological Sciences: Biochemistry at UFRGS. Post-doctorate, Department of Biochemistry, UFRGS (2009-2010), and Department of Pediatrics, University of Pittsburgh, USA (2015-2016). Affiliated Member of Brazilian Academy of Sciences (ABC) (2013-2017). Research focuses on the study of the pathophysiology of Inborn Errors of Metabolism (IEM), especially aminoacidopathies and organic acidemias, in animal models. He investigates the influence of the metabolites accumulating in IEM on important cellular systems, such as energy metabolism, redox homeostasis, and signaling pathways. Over 70 published manuscripts in international scientific journals of high impact. Reviewer of many Journals in the field of Biochemistry and Neuroscience.

Fatty acid oxidation disorders, carnitine deficiency, phenylketonuria, organic acidemias, clinical management, sapropterin, membrane transport, brain creatine deficiency syndromes.

Dr Charles M. Lourenço is a clinical biochemical geneticist with a special interest in genetic neurodegenerative disorders. He is a Consultant Physician at the Neurogenetics Clinic of the Hospital of Ribeirão Preto, University of São Paulo, Brazil, where he is also a member of the Lysosomal Unit being involved in the care of patients with lysosomal storage disorders. Dr Lourenço holds a PhD in neurogenetics and his PhD thesis focused on spinocerebellar ataxia of early onset, especially on a subset of patients with ataxia and hypogonadism. Most recently, he has been involved in a new multidisciplinary clinic at his hospital, which mainly focuses on investigation of childhood neurodegenerative disorders, and in particular patients with early-onset cerebellar ataxia and genetic white matter disorders. Dr Lourenço's interests include the clinical and molecular aspects of leukodystrophies, hereditary spastic parapareses, metabolic causes of neonatal cholestasis, hereditary spinocerebe.

Dr Manoli is a physician scientist at the Organic Acid Research Section of the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), in Bethesda, MD. After receiving her M.D. from the University of Athens, Greece, she pursued residency in pediatrics at the University of Oxford, UK, and postgraduate training including a M.Sc. in endocrinology and a Ph.D. in genetics, at the University of Athens, Greece. She worked as a postdoctoral fellow on mitochondrial genomics at the National Center for Complementary and Alternative Medicine, NIH, Bethesda, MD. Subsequently, she trained in clinical and biochemical genetics, at the Medical Genetics Branch, NHGRI, NIH, and was ABMG certified in 2009. She works on animal models and the clinic to elucidate the pathophysiology, discover new disease biomarkers and test small molecule therapies, with the aim to develop better treatments for methylmalonic acidemias (MMA) and intracellular cobalamin metabolism defects.

Ana Maria Martins, M.D. Ph.D, graduated in Medicine at University of Taubaté, specialization in Pediatrics, Genetics and Inborn Errors of Metabolism, at Federal University of São Paulo. Master's degree in Pediatrics and Applied Sciences at Federal University of São Paulo, Ph.D. In Medicine at Federal University of São Paulo, postdoctoral at Pennsylvania Hospital in Pittsburgh, postdoctoral at the University of California (San Diego) and certificate by Brazilian Society of Clinical Genetics. Currently Associate Professor at the Federal University of São Paulo and Director of Center of Reference in Inborn Errors of Metabolism.

Dietrich Matern, M.D., Ph.D., is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and serves as Chair of Mayo Clinic's Division of Laboratory Genetics and Genomics, as well as co-director of Mayo Clinic's Biochemical Genetics Laboratory. He has a primary interest in the biochemical diagnosis of inborn errors of metabolism, particularly lysosomal storage disorders, mitochondrial fatty acid beta-oxidation disorders, organic acidemias, amino acidopathies, and glycogen storage disorders. Dr. Matern's research activities involve the development and improvement of laboratory assays for the effective and efficient screening, diagnosis and follow-up of patients with inborn errors of metabolism. A particular focus in recent years has been on newborn screening for several lysosomal storage disorders, X-adrenoleukodystrophy, Friedreich ataxia and Wilson disease.

Associate Professor of Genetics, Pediatrics, and Pathology, and the Director of the Center for Human Genetics at Case Western Reserve University and University Hospitals Case Medical Center (Rainbow Babies and Children’s). He is the Director of the Medical Genetics Residency Program and an Associate Director of the Center for Inherited Disorders of Energy Metabolism (CIDEM) laboratory. His research laboratory studies disorders of energy metabolism, specifically MCAD deficiency, and he is involved in a variety of clinical trials for children and adults with inborn errors of metabolism and mitochondrial diseases.

Physician and researcher interested in lipid energy metabolism and in inborn errors that are frequent in Quebec, Canada.

Dr Helen Michelakakis studied Biochemistry at Bedford College University of London, UK. She completed her PhD at the Division of Inherited Metabolic Diseases, MRC Clinical Research Centre, Harrow, UK, on "studies on the factors involved in the secretion of enzymic and non-enzymic contents of rat liver lysosomes". She was awarded her PhD from London University on 1981.She is Head of the Department of Enzymology and Cellular Function at the Institute of Child Health in Athens, where diagnosis and follow-up of patients with lysosomal storage diseases and other metabolic disorders are carried out. She is founding member and Vice -Chairperson of the Hellenic Society for the Study of Inborn Errors of Metabolism, founding member of and Vice President till 2016 of the European Working Group on Gaucher disease .She is currently member of the SSIEM Council. Her research interests include the genetic basis and pathophysiology of lysosomal storage diseases.

Fanny Mochel is an associate professor of genetics at the University Pierre and Marie Curie (UPMC). She received her MD in Genetics in 2005 at the University Paris Descartes, her PhD in Neuroscience in 2010 at UPMC and is board certified in inborn errors of metabolism. Dr Mochel runs a Neurometabolic clinic at La Pitié-Salpêtrière university hospital. She is co-chair of the French society for inborn of errors of metabolism in adults (SFEIMA) and has recently joined the council of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Her research is focused on the characterization and treatment of brain energy deficiencies in neurogenetic and neurometabolic diseases, especially Huntington disease and GLUT1 deficiency syndrome. Her major areas of expertise are the identification of neurometabolic biomarkers in vitro (metabolomics) and in vivo (nuclear magnetic resonance spectroscopy) as well as therapeutic approaches targeting the Krebs cycle.

Dr Morava graduated as a Medical Doctor by the University of Pecs, Hungary. She specialized in pediatrics in 1994. She specialized in human genetics in 1999. She defended her PhD thesis in 2000. She trained in clinical biochemical genetics at Tulane University between 1996-1998, and worked as a clinical geneticist until 2002, and as a metabolic pediatrician at umcRadboud in the Netherlands till 2012. Since 2012 she has been full professor at the Tulane University Medical Center, at the Hayward Genetics Center, as a biochemical geneticist. Since 2015 she is also faculty at the University Hospitals Leuven, in Belgium. Eva Morava is a member of international committees including patient associations, like CDG-CARE, and scientific advice groups, including the SSIEM council. Her list of publications includes more than 200 peer reviewed scientific papers. Her special research interests are on CDG. She is editor in chief of the JIMD and vice-coordinator for MetabERN.

MD, PhD, Professor of Medicine, Pediatrics, Pathology, and GeneticsUniversity of California, San Diego School of Medicine - Dr. Naviaux is the founder and co-director of the Mitochondrial and Metabolic Disease Center (MMDC), and Professor of Medicine, Pediatrics, Pathology, and Genetics at UCSD. He directs a core laboratory for metabolomics at UCSD. He is the co-founder and a former president of the Mitochondrial Medicine Society (MMS), and a founding associate editor of the journal Mitochondrion. He is an internationally known expert in human genetics, inborn errors of metabolism, metabolomics, and mitochondrial medicine. He is the discoverer of the cause of Alpers syndrome?the oldest Mendelian form of mitochondrial disease?and the developer of the first DNA test to diagnose it. His lab also discovered the first mitochondrial DNA (mtDNA) mutations that cause autism and has developed a number of advanced technologies like biocavity laser and novel metabolomics methods.

Professor, Department of Pediatrics, Faculty of Medicine, Saitama Medical University. Previous Appointments: Principal Investigator: Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science; 1992-1994 Honorary Visiting Scientist (On leave from Saitama Medical University): Department of Biochemistry, La Trobe University, Bundoora, Victoria, Australia; 2002-2003 Research Areas: Inherited Metabolic Diseases: Mitochondrial Respiratory Chain Disorders, Urea Cycle Disorders, Fatty Acid Oxidation Defects Dyslipidemia Diabetes Mellitus.

MD, PhD, FRCP(C) - Is a medical and molecular geneticist. He is Professor in the Department of Biochemistry and Director of the Clinical Genomics Laboratory of the Faculty of Medicine of Universidade Federal de Minas Gerais in Belo Horizonte, Brazil. He is also President of GENE - Nucleo de Genética Médica, a biotechnology company that provides clinical genetics services and DNA diagnostics in Brazil. Professor Sergio Pena is a former President of the Brazilian Society of Biochemistry and Molecular Biology. He is a member of the Brazilian Academy of Sciences and of the Academy of Sciences of the Developing World (TWAS). Professor Sergio Pena received the Great Cross of the Brazilian National Order of Scientific Merit. In 2007, he was awarded the International TWAS Prize in Medical Sciences.

Prof. Frances Platt obtained her PhD from the University of Bath, UK, and was a postdoctoral fellow at Washington University Medical School in St. Louis, USA. She was a Lister Institute Senior Research Fellow at the University of Oxford. Prof. Platt's main research interests include the biology and pathobiology of glycosphingolipids. She pioneered the development of miglustat for the treatment of glycosphingolipid storage diseases. In 1999, Prof. Platt was awarded the Alan Gordon Memorial Award and the Horst Bickel Award for advances in metabolic disease therapy. She was elected a fellow of the Academy of Medical Sciences in 2011. She is a Wellcome Investigator in Science.

Kimiyo Raymond, is presently working for Mayo Clinic Colleague of Medicine, Department of Laboratory Medicine, Laboratory Genetics in the capacity of co-director for the Biochemical Genetics Laboratory. My interest encompasses lysosomal storage diseases, and congenital disorders of glycosylation. My main insolvent within the laboratory are laboratory genetics test interpretation, laboratory test developed maintenance and troubleshooting, and development and validation of new test platforms complying with local, national and federal regulatory agency requirements for clinical diagnostic testing.

Dr. Antonia Ribes, received her speciality in Clinical Biochemistry and her PhD at the University of Barcelona. At present she is the head of the Division of Inherited Metabolic Diseases at Hospital Clinic of Barcelona, Spain. She is the group leader of the 737 Unit of the Spanish Research Network for Rare Diseases (CIBERER), and the group leader of Inherited Metabolic Diseases at the Research Institute of Hospital Clinic (IDIBAPS). She is a council member of the SSIEM. She has focused her research on translational medicine in the field of inherited metabolic diseases, particularly in the energy metabolism. The strategic objective of her group is to investigate the genetic and biochemical bases, as well as the physiopathological mechanisms of these diseases, with the ultimate aim to develop new diagnostic and therapeutic strategies.

Markus Ries, MD, PhD, MHS, FCP is a Professor, board certified Physician-Scientist, and research group leader at the Center for Pediatric and Adolescent Medicine, Pediatric Neurology and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany. He had an active role in three successful drug registration programs and has drug development experience with biologics and small molecules, both early and late stage development. Dr. Ries has clinical, academic and biopharmaceutical industry expertise in neurosciences/neurometabolics and complex multisystemic health conditions. Dr. Ries has an MD from the University of Mainz, Germany, a PhD (biochemistry) from the University of Bonn, Germany, and a Master of Health Sciences in Clinical Research from Duke University, Durham, NC. He received postgraduate clinical and research training at the University Hospitals of Mainz and Heidelberg, both in Germany, and the National Institutes of Health, Bethesda, MD. Dr. Ries has authored 56 papers and his current h-index is 27.

MS Cristiano Rizzo is the Principal Biologist and Specialist in Clinical Biochemistry at the Metabolic Laboratory of Bambino Gesù Children's Hospital in Rome, ItalyHe in his career was responsible for the development of new methods of analysis using chromatography and mass spectrometry for the study of several hereditary metabolic diseases. He has been a professor of clinical application of mass spectrometry in various Italian and foreign universities. He has been a Coordinator of the Permanent Italian School of Laboratory Medicine SIBioC. He is Member and Advisor of the Italian Society for the Study of Hereditary Metabolic Diseases and Neonatal Screening and he is a member of the Board of Trustees of ERNDIM Foundation.He is the author of 46 research articles in international journals, 4 book chapters and 40 oral presentations at international conferences.

Professor of Pediatrics at University of Costa Rica. Head of the Medical Genetics and Metabolism Service at the Hospital Nacional de Niños, in San Jose, Costa Rica. Research interests: neonatal screening and rare diseases.

MD, PhD - Graduated from Graduate School of Medicine, Tokushima University in 1970, and got a PhD degree at Tokushima University. 1980, Professor of Biochemistry, Faculty of Medicine, Kagoshima University. At present, Guest Researcher at Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences. After characterization of a type of hepatocerebral disease biochemically as adult-onset type II citrullinemia (CTLN2), discovered the causative gene for CTLN2, showed that the same gene is the cause of neonatal intrahepatic cholestasis (NICCD), named the diseases citrin deficiency, and identified the gene encoding mitochondrial aspartate glutamate carrier. Also invented a mouse model for citrin deficiency, citrin and mitochondrial glycerol 3-phosphate dehydrogenase double-KO mouse, and by using the model, characterized pathophysiology of citrin deficiency and developed novel therapeutic procedures for the disease.

Amsterdam, NetherlandsProf Gajja Salomons obtained her PhD at the Netherlands Cancer Institute/University of Amsterdam. She took over the Metabolic Laboratory of the VU University Medical Center in Amsterdam that was lead by Prof Jakobs until 2012. The laboratory provides diagnostics in inborn errors of metabolism on the following levels: metabolites, enzymes, DNA/RNA and at the functional level using overexpression models. The research interest of the Metabolic Laboratory is unraveling the cause of neurometabolic disorders, development of diagnostic approaches and translational research. Prof Salomons is chairman of the Society for the Study of Inborn Errors of Metabolism (SSIEM) since september 2016.

Jörn Oliver SASS is Professor of Bioanalytics and Biochemistry at the Bonn-Rhein-Sieg University of Applied Sciences in Germany. Upon the completion of his doctoral degree in Biochemistry at the Freie Universität Berlin, Dr Sass started work on IEM at the University of Innsbruck Children's Hospital. Subsequently, Dr Sass became Head of the Laboratory of Metabolism and of the Laboratory of Clinical Biochemistry and Metabolism of the University Children`s Hospital in Freiburg. Following his habilitation in Clinical Biochemistry in 2005, Dr Sass was appointed Supernumerary Professor of the Medical Faculty of the University of Freiburg in 2009. In 2012, Dr Sass became Principal Biochemist at the University of Zürich Children's Hospital prior to assuming his current post in 2015. His broad research interest includes the metabolism of branched-chain amino acids (with ketogenesis and ketolysis), acylation and deacylation (with deficiencies of aminoacylases incl. Canavan disease).

Director of the Institute for Rare Diseases at the Department of Pediatrics of the Horst Schmidt Klinik, Wiesbaden. He is a Co-Founder and Scientific Coordinator of the “BRAINS FOR BRAIN” Research Consortium, a Paneuropean Task Force on Brain and Neurodegenerative Lysosomal Storage Diseases. Research interests focus on managing rare pediatric neurodegenerative diseases, developing systems for newborn screening of lysosomal storage diseases (LSDs), identifying biomarkers involved in LSD pathogenesis, and developing novel LSD therapies.

Scientific Director of the Laboratory of Neurochemistry “Dr. N. A. Chamoles”. President of Fundación para el Estudio de las Enfermedades Neurometabólicas (F.E.S.E.N) in Buenos Aires, Argentina. Research interests include neonatal screening and lysosomal diseases.

Dr Manuel Schiff is an Associate Professor of Pediatrics and Head of the Reference Centre for Inborn Errors of Metabolism at the Robert-Debré University Hospital in Paris, France. After an undergraduate degree in Biochemistry and a residency in Paediatrics, he completed a PhD in mitochondrial biology, under the supervision of Dr Pierre Rustin at the University of Paris Descartes. He then was a post-doctoral fellow at Dr Jerry Vockley’s laboratory at the University of Pittsburgh, USA. His clinical research interests include mitochondrial energy metabolism, CDG and homocystinurias/ B12 and folate metabolism disorders for which he is a partner in the European collaborative network (EHOD). His basic research interest is mitochondrial energy metabolism. He has been appointed Honorary Secretary of the SSIEM (Society for the Study of Inborn Errors of Metabolism) in September 2016.

As a medical student and resident, I received research training in two areas, the bioenergetics of mitochondria and the lipids of pulmonary surfactant. When I established my own area of research, I began to focus on a specific mitochondrial phospholipid, cardiolipin, which was a largely unexplored area in the late 1980’s. I worked in various laboratories in Europe and the US to develop new analytical techniques to elucidate the structure and function of cardiolipin. The most significant achievements of this period include the discovery of the cardiolipin remodeling pathway (1990), purification of the enzyme cardiolipin synthase (1991) and the development of a new technique to analyze molecular species of cardiolipin (1999). In 2000, evidence began to emerge that cardiolipin metabolism may be involved in Barth syndrome, an X-linked cardiomyopathy that also affects skeletal muscles, growth, and neutrophils. Ever since, I have concentrated my research on the molecular mechanism of this disease. My laboratory discovered in 2002 that patients with Barth syndrome have an absolute deficiency of a specific form of cardiolipin that contains four residues of linoleic acid (L4-cardiolipin). We established the enzymatic function of the protein that is mutated in Barth syndrome (2006) and developed the first animal model of Barth syndrome in Drosophila (2006). Eventually, we could unravel the mechanism by which cardiolipin acquires its characteristic molecular composition (2012).

Dr. Schuchman is The Genetic Disease Foundation Francis Crick Professor and Vice Chairman for Research in the Department of Genetics & Genomic Sciences of the Icahn School of Medicine at Mount Sinai in New York. His laboratory has been studying the biology of lysosomal enzymes and storage diseases for over 30 years. He has published over 200 peer-reviewed scientific auricles and 100 book chapters and invited reviews on these subjects, and his research has been continuously funded by the National Institutes of Health, including a MERIT award for his work on Types A and B Niemann-Pick disease. Among his accomplishments are the development of the first enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD; Types A & B Niemann-Pick disease) and Farber disease (acid ceramidase deficiency), and repurposing of acid ceramidase for its use in Cystic Fibrosis and other diseases. He is an inventor on numerous patents and has received several awards for his research.

Ida Vanessa D. Schwartz, MD, PhD, held residency in Medical Genetics at the Medical Genetics Service of the Hospital de Clínicas of Porto Alegre (SGM-HCPA) - Brazil, and a master's and doctorate degree in lysosomal diseases, with a sandwich PhD at the Willink Biochemical Genetics Unit (Manchester, UK). She is currently the coordinator of the Gaucher Disease and Inborn Errors of Metabolism (IEM) Clinics (Small Molecules) of SGM-HCPA, coordinator of the Residency Program in Medical Genetics at SGM-HCPA, and a professor of genetics and clinical genetics at the Faculty of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS) - Brazil. She is the author of more than 100 indexed articles, all in the IEM area, and an affiliated member of the Brazilian Academy of Sciences.

Co-Director, Pediatric Transplantation; Director, Pediatric Transplantation Research Member of surgical group that has accumulated the largest single center experience with liver transplantation for MSUD. Professor of Surgery at the University of Pittsburgh. Background includes transplant surgery fellowship at the University of Nebraska, general surgery residency at Tufts-New England Medical Center in Boston, immunology research fellowship at Children’s Cincinnati, after medical school at the Armed Forces Medical College in Pune, India. Current interests: a) clinical outcomes research in pediatric liver and intestine transplantation using the Pittsburgh and the United Network for Organ Sharing multicenter dataset in the US, b) Understanding the genetic bases of biliary atresia and hepatoblastoma that require transplantation in childhood, and developing novel diagnostics for personalized prediction and treatment of transplant rejection.

Dr. Singh is a Professor of Human Genetics at Emory University. With over 20 years of experience in the field of inborn errors of metabolism (IEM), her research focuses on the efficacy of restrictive diets and genotype/phenotype relationships, maximizing the benefits of the early identification through newborn screening (NBS) and treatment with diets to improve health outcomes. She is founding President of Genetic Metabolic Dietitians International (GMDI), PI for the Nutritional Management Guidelines Project, electronic Genetic Nutrition Academy (eGNA), and served as the Chair for the nutrition section of the PKU Scientific Review Committee of the National Institute of Health. She received a grant from State of Georgia to develop Medical Nutrition Therapy for Prevention (MNT for P) program for IEM, which will not only improve access to genetic nutrition services, but also lead to development of a national model for long-term outcomes as they relate to nutrition intervention.

Current President of the Brazilian Society of Medical Genetics Medical Geneticist of the Medical Genetic Service at the Hospital de Clínicas de Porto Alegre, Rio Grande do Sul (RS), Brazil. Master and PhD in Genetics and Molecular Biology in 2005. Expertise in medical genetics, biochemical genetics and clinical pathology, with emphasis on human genetics and medicine. Coordinator of the call free Information Service on Inborn Errors of Metabolism, Hospital de Clinicas de Porto Alegre. Currently working in the following areas: Clinical Genetics, Inborn Errors of Metabolism, Neurogenetics, Neuromouscular disorders, Glycogen Storage Disorders, Lysosomal Storage Disorders (LSDs) and research in Genetics. Co-authored of several articles in the field of Inborn Errors Of Metabolism and neurogenetics. Scientific expert review of scientific medical journals.

Medical Director of the Clinic for Special Children in Strasburg, PA. Adjunct Associate Research Professor at Franklin & Marshall College. Research interests include liver transplantation for IEM, MSUD, glutaric acidemia type I, and other IEM in the plain communities.

Chief of the Bone Marrow Transplantation and Cellular Therapies Division at Children´s Hospital of Pittsburgh of UPMC. Professor of Pediatrics at the University of Pittsburgh School of Medicine. Research focused on understanding the biology of immune reconstitution and alloreactivty after cord blood transplantation and developed immunotherapy strategies to prevent or treat leukemia relapse after cord blood transplantation.

Washington, DC, USA - Marshall Summar is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Medical Center. He is an international expert in inborn errors of metabolism particularly those in the urea cycle. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Center at Children's National. He is one of the founding investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Dr. Summar is board-certified in pediatrics, clinical genetics, and biochemical genetics.

Dr Michel Tchan is a Clinical Geneticist at Westmead Hospital and Senior Lecturer in Genetic Medicine at the University of Sydney. His main area of clinical and research interest is in adults with rare inborn errors of metabolism, particularly the lysosomal storage disorders, and other Mendelian genetic conditions. He runs the NSW statewide service for adults with genetic metabolic disorders, with clinics held at Westmead Hospital, Prince of Wales Hospital and Hunter Genetics.

I have been working on the mucopolysaccharidoses (MPS, which represent 11 diseases) for the past 25 years, from the clinical and basic research aspects, both in Japan and in the United States. We established GAG assay by tandem massspectrometry and developed the bone targeting system (a new drug delivery system) in conjunction with enzyme replacement therapy or other types of molecules. This DDS would lead to an additive effectiveness and could be applied to a variety of genetic bone diseases whose enzyme is deficient. Thus, this unique strategy has allowed us to open the new field such as treatment of congenital bone diseases (hypoparathoidism, hypopohspatasia, achondodysplasia etc). Our new DDS is also applicable to any systematic bone diseases such as osteoporosis, infection, cancer, and other genetic diseases.

Dr. Filippo Vairo is a clinical geneticist and holds a Master degree in Medical Sciences and a PhD degree in Genetics and Molecular Biology. He is a consultant in the Medical Genetics Service in Hospital de Clínicas de Porto Alegre, Brazil, where he is the responsible for the follow up and treatment of patients with Fabry and Gaucher diseases. He is member of the Editorial Board of the Journal of Inborn Errors of Metabolism and Screening, member of the directory board of the Brazilian Society of Medical Genetics, affiliated member of the Brazilian National Academy of Medicine and is one of the organizers of the Latin American School of Human and Medical Genetics. Currently, he is a research fellow at Mayo Clinic Center for Individualized Medicine, in Rochester, MN, USA.

Head of the Laboratory of Inborn Errors of Metabolism and Screening at National Institute of Pediatrics, Ministry of Health, Mexico. Over 20 years of experience in inborn errors of metabolism and neonatal screening, with emphasis on aminoacidopathies and organic acidemias. President of the Mexican Society of Inborn Errors of Metabolism and Neonatal Screening.

He is board-certified in pediatrics, clinical genetics and biochemical genetics and is an attending physician at the Mark O. Hatfield Clinical Center at NIH, where he has initiated a translational research program to study the natural history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA) and cobalamin metabolic disorders. The clinical research studies are paralleled by laboratory investigations that have focused on the development of experimental systems to study the genetics, genomics and biochemistry of organic acid metabolism in model organisms, including roundworms, mice and zebrafish. Using a translational research approach, has published a number of papers that connect disease pathophysiology in MMA to mitochondrial dysfunction and prove the efficacy of gene therapy as a treatment for both methylmalonic acidemia and propionic acidemia.

Doctor Christine Vianey-Saban (PhD, PharmD) is Head of the Laboratory “Inborn Errors of Metabolism and Neonatal Screening” in Centre de Biologie Est in Lyon, France. She is involved in the biochemical diagnosis of IEM since 1983. Her research topics concern enzymatic and molecular bases of mitochondrial fatty acid oxidation, and the development and validation of new markers for the diagnosis of inborn errors of metabolism using tandem mass spectrometry: mitochondrial fatty acid oxidation defects, organic acidemias, aminoacidopathies. She is author of more than 150 scientific articles in international journals, and speaker / chairman at more than 40 international conferences.

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has served on numerous national/international scientific boards including the Advisory Committee (to the Secretary of HHS) on Heritable Disorders in Newborns and Children. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM) and serves as chair of the Pennsylvania State Newborn Screening Advisory Committee and the American College of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD), and co-founder and editor of the North American Metabolic Academy.

Medical Doctor at Federal University of Rio Grande do Sul (UFRGS) (1973), residency in Internal Medicine at the University Hospital of Porto Alegre, Ph.D. in Basic Sciences at the University of Newcastle Upon Tyne, England (1982) and post docs in London (1986-1987), Heidelberg, Germany (1993), and New Haven, USA (1995). Full Professor of Biochemistry UFRGSl, full member of the Brazilian Academy of Sciences, Associate Editor of Biochem Byophys Reports and the Journal of Inborn Errors of Metabolism and Screening, member of the editorial board of Neurotoxicity Research and the Brazilian Journal of Medical and Biological Research, former president of SBBq (2012-2014), a reviewer of more than four dozen foreign journals in the field of biochemistry, genetics and neurosciences. Topic of research; Metabolic Hereditary Diseases; Investigation of the toxicity of aninoa cids and carboxylic acids accumulating in organic acidemias, fatty acid oxidation disorders and aminoacidopathies

Ronald J.A. Wanders studied Chemistry, specialized in Biochemistry and did his PhD on mitochondrial metabolism under supervision of Prof. Dr. Joseph M Tager at the E.C. Slater Institute for Biomedical Research at the University of Amsterdam. Thereafter he accepted a position as postdoctoral fellow in the Department of Clinical Chemistry and Pediatrics and started to work on metabolic diseases, notably Zellweger syndrome. He was appointed assistant Professor in 1988, associate Professor in 1991 and full Professor in 1996. He is Head of the Laboratory Genetic Metabolic Diseases since 2003. He has received many Awards, predominantly for his work on metabolism and peroxisomes which includes the IFCC 2011 Award, the Komrower 2012 Award and the Hamdam Award 2012 for Excellence in Medical Sciences in 2012. He has participated in five different EU-projects as full partner and project leader. His field of expertise is metabolism, metabolomics, and peroxisomal and mitochondrial disorders.

Dianne’s introduction to inborn errors of metabolism was her first position following a MSc in Chemistry – as a research assistant working with Dr David Becroft on aspects of hereditary orotic aciduria. She followed this up with broader studies of purine and pyrimidine metabolism with Dr Anne Simmonds and completed a PhD at the University of London. After a brief spell in adenosine pharmacology she returned to her inborn error roots in newborn screening and has been Director of the NZ programme since 1991. As a consultant to the International Atomic Energy Agency she actively supported initiatives to introduce screening to a number of countries especially in the Asia-Pacific region. She has been active in HGSA / ASIEM and the International Society of Neonatal Screening. She is a recipient of the Guthrie Award for contributions to newborn screening internationally and the CLSI award for excellence in global standards development.

I graduated as a dietitian in 2009 and as a clinical epidemiologist in 2011. I work as a dietitian since 2009 and specialized in pediatrics and metabolic diseases from 2010 onwards. Starting in 2013 I worked for 3.5 years as the project assistant in the development of European PKU guidelines. Sinds 2017 I started my PHD in Phenylketonuria.

Professor Bridget Wilcken graduated in medicine from Edinburgh University. She has over 40 years' experience in the investigation and treatment of patients with inborn errors of metabolism. Until 2012 she was Clinical Director of the New South Wales Biochemical Genetics and Newborn Screening Services at the Children's Hospital at Westmead, Sydney, and is currently a part-time metabolic physician at Sydney Children's Hospital. Research has been mainly in the general area of newborn screening, especially screening for cystic fibrosis and expanded screening by tandem mass spectrometry. She is former President of the Human Genetics Society of Australasia, the International Society for Neonatal Screening (ISNS), and the Australasian Society for Inborn Errors of Metabolism. She has been awarded the Order of Australia and the Guthrie Medal of the ISNS for services to newborn screening.

Clinical Associate Professor Veronica Wiley is the Director of the NSW Newborn Screening Programme, Australia. She has wide ranging responsibilities covering all aspects of newborn screening practice. She is a scientist with over 40 years of experience in paediatric biochemistry especially screening, detection, diagnosis and monitoring of inborn errors using techniques including immunoassay, mass spectrometry, enzyme assays and various DNA variant analyses. She has particular interests in data storage and retrieval and the use of tandem mass spectrometry in newborn screening. A/Prof Wiley is the past President of the International Society for Neonatal Screening (ISNS) and is an active member of several other professional societies including the AACB, ASIEM, HGSA and the RCPA; she has been awarded fellowship of the HGSA and RCPA; is a member of committees for HGSA, ASIEM and ISNS. She is requested to provide presentations on a large number of topics associated with Newborn Screening.

Dr. Zanlungo´s group (Department of Gastroenterology, School of Medicine, PUC) has been focused in the study of the molecular and cellular mechanisms involved in cholesterol intracellular transport in physiological and pathological conditions. Her group is particularly interested in studying the role of the cholesterol transport-related Niemann Pick C (NPC) proteins, NPC1 and NPC2, in neurons and hepatic cells. She is specifically interested in studying cholesterol transport in the liver and the relevance of NPC proteins in oxidative stress and copper metabolism, liver damage, fibrosis and apoptosis. In the CNS, she is studying the connection between cholesterol transport defects, stress response and apoptosis of cerebellar neurons. In the last years Dr. Zanlungo´s group has been deeply exploring the cellular and molecular bases of Niemann Pick type A, B and C lysosomal diseases searching for new therapeutic targets.

Updated Program

Plenary Sessions

Session with Simultaneous Translation English-Spanish.

Session with Simultaneous Translation English-Spanish.

Pre-Congress Parallel Sessions

Session with Simultaneous Translation English-Spanish.

Session with Simultaneous Translation English-Spanish.

Parallel Sessions

Session with Simultaneous Translation English-Spanish.

SEP 6 - 11:00-12:30 - 4 Simultaneous Parallel Sessions

Chair: RJ Wanders (Amsterdam, Netherlands)
Co-chair: H Amartino (Buenos Aires, Argentina)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 S Kemp (Amsterdam, Netherlands) Overview/Update: Peroxisomal Disorders
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 S Elsea (Baylor College of Medicine) A metabolomic map of mild peroxisome biogenesis disorders reveals sphingomyelins as novel disease biomarkers (Abstract 574)
11:45 – 12:00 H Amartino (Universitario Austral, Buenos Aires, Argentina) Expanding our understanding of Cerebral Adrenoleukodystrophy and Interim phase 2/3 results of an autologous hematopoietic stem cell gene therapy (Abstract 570)
12:00 – 12:15 S Maricich (BioMarin Pharmaceuticals) Preliminary safety and pharmacodynamic response data from a phase 1/2 study of ICV BMN 250, a novel enzyme replacement therapy for the treatment of Sanfilippo syndrome type B (MPS IIIB) (Abstract 598)
12:15 – 12:30 M Trivisano (Bambino Gesù Children’s Hospital, IRCCS Rome, Rome, Italy) Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: interim results from an ongoing multicenter extension study (Abstract 787)

Chair: P Karam (Beirut, Lebanon)
Co-chair: S Zanlungo (Santiago, Chile)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 MD AlSayed (Riyhad, Saudi Arabia) Overview/Update: IEM in Developing Regions
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 D Thoburn (Murdoch Children’s Research Institute, Melbourne, VIC, Australia) The utility of quantitative proteomic and RNA analyses to aid in diagnosis of Exome- unsolved cases and in the identification and characterization of novel disease genes (Abstract 541)
11:45 – 12:00 S Violante (Ichan School of Medicine) Development of a clinical metabolomics platform: biomarker characterization in inborn errors of metabolism (Abstract 046)
12:00 – 12:15 A Rolfs (Albrecht-Kossel Institute, University of Rostock, Rostock, Germany) Glucosylsphingosine (lyso-Gb1) plays a central role in the diagnosis and correct assessment of disease severity in Gaucher patients (Abstract 713)
12:15 – 12:30 M Hochuli (University Hospital Zurich, Zurich, Switzerland) Plasma deoxysphingolipids as potential novel biomarker in glycogen storage disease type 1 (Abstract 448)

Chair: M Beck (Mainz, Germany)
Co-chair: A Acosta (Salvador, Brazil)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 FS Ezgü (Ankara, Turkey) Overview/Update: Population Medical Genetics and IEM
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 L Ghaloul-Gonzalez (University of Pittsburgh, Pittsburgh, PA, USA) Reticular dysgenesis and Mitochondriopathy induced by Adenylate kinase 2 deficiency identified in the Amish population (Abstract 554)
11:45 – 12:00 O Purcell (National Centre for Inherited Metabolic Disorders, Temple Street Children’s University Hospital, Dublin, Ireland) Growth patterns in the Irish Pyridoxine Non-responsive Homocystinuria population and the influence of metabolic control and protein intake (Abstract 329)
12:00 – 12:15 N Al-Dewik (Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar) The Diagnosis Yield and Novel Genetic Findings by Clinical Exome Sequencing in Highly Consanguineous Middle Eastern Families with Suspected Mendelian Disorders: Experience with 508 Samples (Abstract 040)
12:15 – 12:30 E Poletto (UFRGS, Porto Alegre, RS, Brazil) Mutational profile of Mucopolysaccharidosis type I patients worldwide (Abstract 626)

Chair: (K Durrer-Deming, Fort Worth, TX, USA)
Co-chair: A Chiesa (Buenos Aires, Argentina)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 V Cornejo (Santiago, Chile) Overview/Update: Dietary Treatment of IEM
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 MJ Pena (Cent Gen Med, CHP; Cent Ref DHM, CHP; Dep Biomed Unid Bioq FMUP; Inst Inv Inov Saúde (I3S), UP, Porto, Portugal) Acute effect of a Phenylalanine-free amino acid mixture on the glycidic metabolism in the rat (Abstract 204)
11:45 – 12:00 J Abdenur (CHOC, Division of Metabolic Disorders, Orange, CA, USA) Dietary treatment in patients with HIBCH and ECHS1 defects: clinical and biochemical response to low-valine diet (Abstract 205)
12:00 – 12:15 J Rocha (Centro de Genética Médica Jacinto de Magalhães, Porto, Portugal) Influence of a Phe-restricted diet on growth development from birth to age 18 years in patients with PKU: A multicentre European study (Abstract 207)
12:15 – 12:30 A Pinto (Birmingham Women’s and Children’s Hospital, Birmingham, UK) International practices in the dietary management of fructose 1-6 biphosphatase deficiency (Abstract 174)

SEP 6 - 14:00-15:45 - 4 Simultaneous Parallel Sessions

Chair: N Gregersen (Aarhus, Denmark)
Co-chair: CF Souza (Porto Alegre, Brazil)

14:00 – 14:05 Opening/Introduction
14:05 – 14:30 A Ohtake (Saitama, Japan) Overview/Update: Mitochondrial Disorders
14:30 - 15:45 Presentations of 5 selected abstracts
14:30 – 14:45 U Ahting (Technische Universität München) High-coverage NGS sequencing of complete mtDNA as diagnostic tool for Mitochondrial disease (Abstract 555)
14:45 – 15:00 A El-Hattab (Tawam Hospital United Arab Emirates) Endothelial dysfunction and the effect of arginine and citrulline supplementation in children with mitochondrial diseases: interim results (Abstract 557)
15:00 – 15:15 M Cuk (New York University, New York, NY, USA) Novel role for store-operated calcium entry in mitochondrial gene expression, energy production and beta-oxidation (Abstract 534)
15:15 – 15:30 N van Bergen (Murdoch Children’s Research Institute, Melbourne, VIC, Australia) NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses (Abstract 540)
15:30 – 15:45 P Prasun (Ichan School of Medicine at Mount Sinai, New York, NY, USA) A novel method for screening of mitochondrial disorders (Abstract 041)

Chair: M Wajner (Porto Alegre, Brazil)
Co-chair: N Longo (Salt Lake City, UT, USA)

14:00 – 14:05 Opening/Introduction
14:05 – 14:30 J Vockley (Pittsburgh, PA, USA) Overview/Update: Fatty Acid Oxidation Disorders
14:30 - 15:45 Presentations of 5 selected abstracts
14:30 – 14:45 H Otsuka (Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan) Pathophysiology of 3-Hydroxybutyrate dehydrogenase (3HBD) deficiency in ketone body metabolism using a Bdh1 Knockout Mouse Model (Abstract 477)
14:45 – 15:00 JO Sass (Bonn-Rhein- Sieg University of Applied Sciences, Rheinbach, Germany) 3-Hydroxy- 3-methylglutaryl- coenzyme A lyase deficiency: clinical presentation and outcome in a series of 37 patients (Abstract 481)
15:00 – 15:15 F Labarthe (CHRU Tours, Tours, France) Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts (Abstract 501)
15:15 – 15:30 S McCalley (University of Pittsburgh, Pittsburgh, PA, USA) Elucidating the mitochondrial architecture of branched-chain amino acid metabolism enzymes (Abstract 390)
15:30 – 15:45 Y Millet (Synlogic, Cambridge, MA, USA) Development of genetically engineered E. coli nissle strains for the treatment of Phenylketonuria and Maple syrup urine disease (Abstract 248)

Chair: P Harmatz (Oakland, CA, USA)
Co-chair: D Horovitz (Rio de Janeiro, Brazil)

14:00 – 14:05 Opening/Introduction
14:05 – 14:30 M Ries (Heidelberg, Germany) Overview/Update: Orphan Drug Development: Lessons Learned
14:30 - 15:45 Presentations of 5 selected abstracts
14:30 – 14:45 D Martinelli (Division of Metabolism, Bambino Gesú Children’s Hospital, Rome, Italy) Effect of EPI-743 on the clinical course of visual damage in Cobalamin C patients: A prospective randomized double-blind phase II clinical trial (Abstract 436)
14:45 – 15:00 J Vockley (Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA) Phase 2 Long-term Pegvaliase treatment for adults with Phenylketonuria: updated year 5 safety and efficacy data from the PAL-003 extension (Abstract 288)
15:00 – 15:15 M Holida (6 Medical Genetics-Lysosomal Storage Disorders, University of Iowa,Iowa City, IA, USA) One year follow-up safety and efficacy of Fabry disease patients treated by IV administration of Pegunigalsidase alfa – a Novel, PEGylated and cross-linked homodimer α- galactosidase-A enzyme (Abstract 785)
15:15 – 15:30 P Harmatz (UCSF Benioff Children’s Hospital, Oakland, CA, USA) Towards establishment of a minimal clinically important difference in the treatment of alpha-mannosidosis: first results from Velmanase alfa (Human recombinant Alpha-mannosidase) development programme (Abstract 804)
15:30 – 15:45 C Simonaro (Ichan School of Medicine at Mount Sinai, New York, NY, USA) Pentosan polysulfate for the Mucopolysaccharidosis and other lysosomal storage diseases (Abstract 659)

Chair: D Webster (Auckland, New Zealand)
Co-chair: A Fonseca (Rio de Janeiro, Brasil)

14:00 – 14:05 Opening/Introduction
14:05 – 14:30 G Borrajo (La Plata, Argentina) Overview/Update: Newborn Screening: Focus on L America
14:30 - 15:45 Presentations of 5 selected abstracts
14:30 – 14:45 M Gelb (University of Washington) Development of a novel 24-Plex newborn screening assay (Abstract 066)
14:45 – 15:00 H Sasai (Gifu University) Molecular diagnosis for target Metabolic diseases of newborn screening using a gene panel in Japan (Abstract 107)
15:00 – 15:15 F Deodato (Bambino Gesù Children’s Hospital, Rome, Italy) Determination of Lysosphingolipids by LC-MS/MS in lysosomal storage diseases (Abstract 717)
15:15 – 15:30 C Cannet (Brucker Biospin GMBh, Rheinstetten, Germany) Automated Nuclear magnetic resonance spectroscopy (NMR) urinary analysis: a new approach for selective screening of inborn errors of metabolism (IEM) (Abstract 53)
15:30 – 15:45 M Pasquali (University of Utah Health Sciences Center/ARUP, Salt Lake City, UT, USA) Analysis of heparan sulfate and non-reducing ends in Mucopolysaccharidosis Type I (Abstract 658)

SEP 7 - 09:00-10:30 - 4 Simultaneous Parallel Sessions

Chair: P Hwu (Taipei, Taiwan)
Co-chair: LA Barrera (Bogota, Colombia)

09:00 – 09:05 Opening/Introduction
09:05 – 09:30 RJ Desnick (New York, NY, USA) Overview/Update: Treatment of Lysosomal Diseases
09:30 - 10:30 Presentations of 4 selected abstracts
09:30 – 09:45 S Tomatsu (Nemours/Alfred I. Dupont Hospital for Children) Hematopoietic stem cell transplantation for patients with Mucopolysaccharidosis II (Abstract 676)
09:45 – 10:00 C Haller (Ultragenyx Pharmaceutical Inc, Novato, CA, USA) Individual heat map assessments demonstrate ERT treatment response in highly heterogeneous MPS VII study population (Abstract 595)
10:00 – 10:15 AC Puga (Sanofi Genzyme, Chilly-Mazarin, France) Long-term safety and efficacy of Olipudase alfa in adults with Acid sphingomyelinase deficiency (ASMD) (Abstract 799)
10:15 – 10:30 R Dekelver (Sangamo Therapeutics, Richmento, CA, USA) ZFN-mediated in vivo genome editing results in phenotypic correction in MPS I and MPS II mouse models (Abstract 648)

Chair: S Cederbaum (San Diego, CA, USA)
Co-chair: M Vela-Amieva (Mexico City, Mexico)

09:00 – 09:05 Opening/Introduction
09:05 – 09:30 T Saheki (Kagoshima, Japan) Overview/Update: Disorders of Citrin Metabolism
09:30 - 10:30 Presentations of 4 selected abstracts
09:30 – 09:45 F-X Mauvais (Metabolic Diseases Unit, Necker-Enfants Malades Hospital, Paris, France) The present and future of transaldolase deficiency based on the experience from a French cohort study and the literature (Abstract 467)
09:45 – 10:00 H Kondo (Osaka University, Suita, Japan) Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms (Abstract 593)
10:00 – 10:15 M Escolar (Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA) Psychosine, A Marker of Krabbe Phenotype And Treatment (Abstract 734)
10:15 – 10:30 F Pesaola (Programa NCL Cemeco-Hospital de Niños de la Provincia de Córdoba, Córdoba, Argentina) CLN8 deficiency impairs dendritic development in hippocampal neuronal model (Abstract 759)

Chair: T Kozicz (New Orleans, LA, USA)
Co-chair: A Schenone (Buenos Aires, Argentina)

09:00 – 09:05 Opening/Introduction
09:05 – 09:30 CM Lourenço (Ribeirao Preto, Brazil) Overview/Update: Psychopathology and Metabolism
09:30 - 10:30 Presentations of 4 selected abstracts
09:30 – 09:45 M Schiff (Robert-Debré Univ. Hospital) DNAJC12 deficiency: a novel treatable cause of hyperphenylalaninemia, central biogenic amines deficiency, dystonia and intellectual disability: the first six patients (Abstract 253)
09:45 – 10:00 N Remacle (Lausanne University Hospital) Deleterious effects of sepiapterin on developing reaggregated rat brain cell cultures (Abstract 293)
10:00 – 10:15 P Mills (UCL GOS Institute of Child Health, London. UK) Mutations in SLC39A14 lead to Manganese neurotoxicity and childhood onset dystonia-Parkinsonism that may be amenable to chelation therapy with Na2CaEDTA (Abstract 851)
10:15 – 10:30 A Latini (Universidade Federal de Santa Catarina, Florianópolis, SC, Brazil) Understanding the biology of the “Pterinergic metabolism” in the brain: Neopterin acts as an endogenous cognitive enhancer (Abstract 886)

Chair: AM Martins (São Paulo, Brazil)
Co-chair: G Biasucci (Milan, Italy)

09:00 – 09:05 Opening/Introduction
09:05 – 09:30 P Clayton (London, UK) Overview/Update: Vitamin and Micronutrients Metabolism
09:30 - 10:30 Presentations of 4 selected abstracts
09:30 – 09:45 E Scalais (Centre Hospitalier de Luxembourg, Luxembourg) High parenteral Hydroxocobalamin dose strategy in 5 patients with different type of intracellular Cobalamin deficiency: clinical and biochemical evolution (Abstract 849)
09:45 – 10:00 M Wilson (UCL Institute of Child Health, London, UK) Pyridox(am)ine 5’- Phosphate oxidase activity in patients with Vitamin B6 responsive Epilepsy: findings and the effect of the common p.R116Q variant upon enzymatic activity (Abstract 846)
10:00 – 10:15 J Reunert (Zentrum für Kinder-und Jugendmedizin, Universitätsklinik, UM Muenster, Muenster, Germany) Brown-vialetto- van Laere syndrome – Life-threatening but treatable Vitamin B2-transporter defect (Abstract 855)
10:15 – 10:30 V Kozich (Institute of IEM, Charles University, 1st Fac Med and General Univ Hosp, Prague 2, Czech Republic) Rescue of CBS mutants by pyridoxine administration: demonstration of in vivo effect by measuring plasma CBS activity (Abstract 312)

SEP 7 - 11:00-12:30 - 4 Simultaneous Parallel Sessions

Chair: E Morava (New Orleans, LA, USA)
Co-chair: K Raymond (Rochester, MN, USA)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 C Asteggiano (Cordoba, Argentina) Overview/Update: Congenital Disorders of Glycosilation
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 G La Marca (University of Florence) A new approach for congenital N-Glycosylation disorders (CDG) diagnosis through the characterization of intact transferrin isoforms by two-dimensional LC-MS (Abstract 060)
11:45 – 12:00 N Carrillo (NIH, Bethesda, MD, USA) N-Acetylmannosamine (ManNAc) for the treatment of GNE Myopathy: 18-month preliminary results from a phase 2 open-label study (Abstract 817)
12:00 – 12:15 A Zuehlsdorf / T Marquardt (UniversitätsklinikMuenster, Kinder-und Jugendmedizin Muenster, Germany) ATP6AP2 deficiency causes a congenital disorder of Glycosylation type II and impaired autophagy (Abstract 828)
12:15 – 12:30 F Moore (NSW Biochemical Genetics Service, The Children’s Hospital, Westmead, Sydney, Australia) Improvement of glycosylation abnormalities in a severely affected patient with SLC39A8 deficiency and mitochondrial dysfunction (Abstract 816)

Chair: T Fukao (Gifu, Japan)
Co-chair: G Mitchell (Montreal, Canada)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 JO Sass (Rheinbach, Germany) Overview/Update: Ketone Bodies: Energy Supply and Epigenetics
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 S Dobrowolski (University of Pittsburgh) Consistent epigenetic findings across human PKU, mouse PKU, and mouse MPKU (Abstract 234)
11:45 – 12:00 I Knerr (NCIMD, Children’s University Hospital, Dublin, Ireland) BCAT2 mutations cause a novel disorder of Hypervalinaemia/hyperleucine-isoleucinaemia, Autistic features and developmental delay detectable by expanded newborn screening (Abstract 354)
12:00 – 12:15 J Haeberle (University Children’s Hospital and Children’s Research Center, Zurich, Switzerland) In vitro studies in a rat 3D brain cell model suggest creatine as treatment for neurotoxicity in argininosuccinate lyase deficiency (Abstract 376)
12:15 – 12:30 B Ryder (Western Sydney Genetics Program, The Children’s Hospital at Westmead, Westmead, NSW, Australia) Fumarase deficiency: a high fat/low carbohydrate diet is safe and potentially disease modifying (Abstract 423)

Chair: T Derks (Groningen, Netherlands)
Co-chair: M Scarpa (Wiesbaden, Germany)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 I Schwartz (Porto Alegre, Brazil) Overview/Update: Networking Experiences/Remote Diagnosis & Follow-up
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 JJ Lee (Centre for Molecular Medicine and Therapeutic, BC Children’s Hospital Research Institute, Vancouver, Canada) IEMbase: knowledgebase and mini-expert platform for the diagnosis of Inherited metabolic diseases: validation, implementation and performance (Abstract 058)
11:45 – 12:00 N Blau (Dietmar Hopp Metabolic Centre for Pediatrics and Adolescent Medicine, University Hospital, Heidelberg, Germany) A tool for allelic and genotype- based prediction of metabolic phenotypes in PKU (Abstract 245)
12:00 – 12:15 J Rahman (UCL Great Ormond Street Institute of Child Health, London, UK) MitoEpilepsy map: a novel computational resource for the diagnosis of Mitochondrial Epilepsy (Abstract 524)
12:15 – 12:30 A Narravula (Centogene AG, Rostock, Germany) Utility of Whole exome sequencing (WES) in the diagnosis of Lysosomal storage disorders (LSDs) (Abstract 888)

Chair: M Schiff (Paris, France)
Co-chair: I Ibarra (Mexico City, Mexico)

11:00 – 11:05 Opening/Introduction
11:05 – 11:30 K Bhattacharya (Sydney, NSW, Australia) Overview/Update: Gut Microbiota and Human Metabolism
11:30 - 12:30 Presentations of 4 selected abstracts
11:30 – 11:45 D Ney (University of Wisconsin) Degradation Of tyrosine by intestinal microbes contributes to reduced bioavailability of tyrosine from amino acid compared with Glycomacropeptide medical foods in Phenylketonuria (Abstract 221)
11:45 – 12:00 J Silva (UNIFESP, São Paulo, SP, Brazil) Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II e VI (Abstract 635)
12:00 – 12:15 G Piraccini (Applied Pharma Research, Balerna Switzerland) A pharmaceutical technology applied to medical food engineered to allow physiological absorption of amino acids (AA) for Phenylketonuria (Abstract 242)
12:15 – 12:30 LN Pimentel Vera (Pontificia Universidad Javeriana. Bogota, Colombia) A new recombinant enzyme for Morquio A enzyme replacement therapy: N-acetylgalactosamine-6- sulfate sulfatase (GALNS) produced in a glycoengineered Escherichia coli strain (Abstract 660)

Session with Simultaneous Translation English-Spanish.

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