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 Federica Deodato, Bambino Gesù Hospital, Rome, Italy  


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. Providing an overview of MLD in children 
  2. Exploring the onset of symptoms and diagnostic delays - looking for the clues for early diagnosis 
  3. Reviewing new therapies that may change the natural history 
  4. Examining a Case Study Example on MLD 
  5. Understanding the importance of early detection, the early start of treatment and sibling screening for MLD


Watch the video!