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: Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease, Senior Lecturer, The University of Manchester, 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. Understanding the main neurological presenting signs of Metachromatic Leukodystrophy in children through real-world case studies
  2. Reviewing the early-onset clinical manifestations and presenting symptoms that should trigger an immediate referral to a specialist
  3. Understanding that delays in the start of treatment have significant consequences on the conditions’ development and quality of life


Watch the video!