Unravelling the Complexity of Treatable Neurometabolic Disorders: A Case-based Session

Course Description
Inborn errors of metabolism (IEM) are individually rare but collectively they form a major group of treatable disorders in children. Affected children manifest with neurological and psychiatric symptoms that overlap more common conditions, and delayed diagnosis is not uncommon. Enhancing knowledge and understanding of these conditions will help neurologists establish early diagnosis. Unravelling the complexity of treatable neurometabolic disorders will enhance knowledge and impact outcomes through appropriate multidisciplinary management. This symposium will focus on the approach and management of patients with treatable neurometabolic disorders, IEM associated with hyperammonemia, pediatric neurotransmitter disorders, cerebral creatine deficiency syndromes and treatable IEMs associated epilepsies.

Learning Objectives

1. Understand key metabolic pathways involved in the biosynthesis of essential neurotransmitters, the clinical presentations and the role of the laboratory in diagnosis of primary defects in neurotransmitter metabolism.
2. Identify biochemical abnormalities and the clinical consequences in primary hyperammonemic disorders, their diagnoses and management.
3. Identify the clinical phenotypes, diagnose various subtypes and optimize the management of inherited cerebral creatine deficiency syndromes.
4. Identify the phenotype and diagnose treatable metabolic causes of epilepsy in children and adolescents.

Impact Statements

1. Timely recognition, utilization of appropriate biochemical and genetics testing to establish early diagnosis and improve outcomes in the four groups of metabolic disorders discussed through appropriate therapeutic interventions.
2. Enhancing collaboration and establishing networks in the global pediatric neurology community dedicated to improve the outcomes of children affected by neurometabolic disorders. Organizer: Asuri N. Prasad, MBBS, MD, FRCPC, FRCPEdin, FAES; Schulich School of Medicine and Dentistry Western University, London, Ontario, Canada

Primary Disorders of Neurotransmitter Metabolism: Challenges in Diagnosis & Management Asuri N. Prasad, MBBS, MD, FRCPC, FRCPEdin, FAES

Primary Hyperammonemic Disorders: Neurological Implications, Current Diagnosis and Management Strategies Bindu Parayil Sankaran MD, DM, FRACP, PhD; Children Hospital at Westmead NSW, Sydney, Australia

Epilepsies Associated with IEM Annapurna Poduri, MD, MPH; Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

Cerebral Creatine Deficiency Syndromes – An Underdiagnosed Entity: Clinical Aspects and Management Sangeetha Yoganathan, MD, DNB, DM; Christian Medical College, Tamil Nadu, India