Unlocking the path for metabolic myopathies

19 October 2024
9:00 - 10:00 AM Eastern Time ( US / Canada

Dr. Ozlem Ersoy graduated from Yeditepe University Faculty of Medicine in Istanbul

Turkey and finished Pediatrics residency in Haseki Training and Research Hospital in

İstanbul. She worked as pediatrician for almost 5 years mostly in neonatal intensive care unit. Then finished pediatric neurology fellowship in Mersin University Faculty of Medicine in Mersin. She is now working in Mersin City Training and Research Hospital as Pediatric Neurology Consultant.

Dr. Elif Perihan ONCEL graduated from Uludag University, Faculty of Medicine in Bursa, Türkiye. She completed her Pediatrics Residency at the Health Sciences University, Tepecik Training and Research Hospital in Izmir, Türkiye, and also her Pediatric Neurology Fellowship at the Baskent University, Adana Dr. Turgut Noyan Application and Research Center and Ankara Hospital. Currently, she is working at Ankara Etlik City Hospital as a Pediatric Neurology Consultant. She is a member of the International Child Neurology Association (ICNA) and Future Leaders of ICNA (FLICNA), the Young European Paediatric Neurology Society (YEPNS), the Asian and Oceanian Child Neurology Association (AOCNA), and the Turkish Child Neurology Association (TCNA).

Dr. Ezgi Çağlar graduated from Kocaeli University Faculty of Medicine in 2004. She worked as an ambulance physician for 2 years. She received my Pediatrics residency from Mersin University in 2013-2018. She worked as a pediatrician for 4 years. Due to her interest in neurology, she started working in child neurology as a fellow at Mersin University in 2022. She is a member of ICNA and FLICNA. She is interested in neuromuscular disease , neuroimmunology and epilepsy.

Dr. Sangeetha Yoganathan completed her training in Pediatric Neurology from All India Institute of Medical Sciences, New Delhi (India). She  served as a faculty in the Pediatric Neurology Unit, Department of Neurological Sciences, Christian Medical College, Vellore (India) from 2013 to 2024. She is on a sabbatical leave and currently, she is pursuing a fellowship in Neurometabolics at The Hospital For Sick Children, Toronto, Canada.

Dr. Ingrid Tein is founder and Director of the Neurometabolic Clinic, Investigational Unit and Research Laboratory since 1991, Staff Neurologist in the Division of Neurology, Senior Associate Scientist Emeritus in the Genetics and Genomic Biology Program in the Research Institute at the Toronto Hospital for Sick Children and Professor Emeritus in the Dept. ofPediatrics and Dept. of Laboratory Medicine and Pathobiology at the University of Toronto. Dr. Tein directs the Neurometabolic Clinic for the investigation and treatment of children with fatty acid oxidation, mitochondrial, and glycolytic disorders and cofactor-responsive epilepsies. She conducts prospective, cross-over cofactor trials in children with mitochondrial disorders and the ergometric investigation of metabolic myopathies. Her Laboratory focuses on the biochemical and molecular investigation of genetic fatty acid oxidation defects including the carnitine/organic cation transporter family and development of in vitro disease models to understand underlying pathophysiological mechanisms. She has identified novel clinical and biochemical phenotypes and genotypes, developed new diagnostic screening tests, and

developed novel treatment strategies aimed at bypassing or correcting the specific metabolic block, which have decreased long-term morbidity and mortality in affected children and have been implemented internationally. She founded the Neurometabolic Fellowship program (2007) and was Director of the Annual Barsky Mitochondrial Lectureship (1996-2021) and Langer Mitochondrial Studentships (2000-08). She has supervised over 50 trainees in Neurometabolic Diseases which has led to the establishment of new Neurometabolic programs in Canada, US, Europe, Middle East and Oceania. She is author of over 170 original peer-reviewed articles and reviews and has given over 412 invited talks (191 internationally including 10 keynotes). She was Co-Scientific Director of the Canadian Mitochondrial Network and Director of the Clinical Research and Therapeutic Discovery Pillar. She served on the International Child Neurology Association (ICNA) Executive Board (2002-2022) and as President of the ICNA (2014-2018). She is recipient of multiple distinguished awards including the ICNA Frank Ford Senior Investigator Award 2024 as well as several teaching awards.

Brief overview about the topic:

Metabolic myopathies are a diverse group of diseases characterized by inherited defects of enzymatic pathways involved in cellular energy metabolism. The three main categories of metabolic myopathies are glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders due to respiratory chain impairment. Diagnosis could be challenging due to broad clinical spectrum of symptoms that can manifest at any stage of lifetime. Metabolic myopathies may have an acute or chronic presentations. High index of clinical suspicion, understanding the pathophysiology and recognition of clinical phenotypes are important in order to establish an early diagnosis, particularly in children with treatable metabolic myopathies.

Learning objectives from the session: 

1. To understand the pathophysiology and pattern recognition in children with metabolic myopathies
2. To understand the management options and recent advances in therapeutics of metabolic myopathies