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 causing confusion among non-trained HCPs at first contact, resulting in misdiagnosis, wrong referral routes and delays in the early start of treatment. Delays in starting treatment have significant consequences on 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: 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 and other physicians and healthcare professionals with an interest in Metabolic Diseases and Genetics. 


  • Recapping the main early signs and symptoms of MLD in children

  • Examining the latest emerging studies on new signs of MLD and what to look for 

  • 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?  

  • Exploring when to refer patients and eliminating the misdiagnoses of MLD with other conditions

  • Case Study example of Gallbladder abnormalities in children with MLD that occur at a far greater incidence than other LSDs


Watch the video. It's free.

The Spot the Early Signs program aims to fight under-diagnosed or late-diagnosed conditions for which treatments are available and where early detection and early treatment could make a significant difference in the condition's development, the quality of life and the survival of patients.