Metachromatic Leukodystrophy (MLD) is a rare hereditary disease characterized by the accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system, ultimately affecting intellectual and motor function. Early-onset clinical manifestations are often overlooked or confused with other conditions, confusing non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment significantly affect the conditions’ development and the patient’s health and quality of life. This delay in referral and treatment must be overcome. 

Language: English ● Duration: 30 minutes, followed by questions from the audience 

Presenter: Prof. Paul Gissen, Clinical Professor and Honorary Consultant in Paediatric Metabolic Diseases. Genetics & Genomic Medicine Dept, Great Ormond Street Hospital, United Kingdom  


This educational activity is designed for an international audience of general pediatricians, general practitioners, pediatric neurologists, physicians, and healthcare professionals interested in metabolic diseases and genetics. 


  1. Recapping the main early signs and symptoms of MLD in children
  2. Examining the latest emerging studies on new signs of MLD and what to look for 
  3. Understanding the limitations of private tests that only look for a certain number of common mutations - Does a negative genetic text always rules out MLD?  
  4. Exploring when to refer patients and eliminating the misdiagnoses of MLD with other conditions
  5. Case Study example of Gallbladder abnormalities in children with MLD that occur at a far greater incidence than other LSDs


Watch the video!