Rare Diseases Day 2023

Industry-Sponsored Symposium Program

 

16:40 - 17:00

Industry-Sponsored Symposium Program
 

Pediatric Neurometabolic Diseases: Prevention and Treatment 

Presented by
Hicham Mansour, MD - Saint George Hospital University Medical Center 

 

Hicham Mansour, MD

Dr. Mansour is an Associate Professor of clinical pediatrics at the University of Balamand in Lebanon. He is a Pediatrician specialized in the Inborn Errors of Metabolism, Neuromuscular diseases, and Pediatric Neurology at the Saint George Hospital University Medical Center. His main interest focus on childhood disability. Dr. Mansour is the President of the Neuro-pediatrics Club (for 8 years now) at the Lebanese Society of pediatrics and the current President and founder of the inborn errors of metabolism club at the Lebanese Society of pediatrics. Dr. Mansour is an active researcher and has multiple publications.

 

Abstract

Even though individually rare; collectively, the inborn errors of metabolism are much more common than expected, especially in highly consanguineous societies like our community. The challenging diagnosis of these disorders remains the main reason behind losing patients to many treatable or preventable neurometabolic disorders from birth till the adult age.

Knowing the basis, the distribution and the categorization of these rare disorders, as well as the geographical spread of the mutations in Lebanon, can very helpful in diagnosing these diseases, and in proposing a treatment road map in distressed metabolic patients while waiting for the confirmatory metabolic work up.

Screening remains a very efficient way in preventing the complications of these disorders and in preparing the children for the episodes of acute decompensation.

Therapies can vary from imposing strict metabolic diets and cofactor molecules, to the use of enzyme replacement therapies and orphan drugs.