Orphanet: Metachromatic leukodystrophy

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Metachromatic leukodystrophy

Disease definition

Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


Classification level: Disorder
  • Synonym(s):
    • Arylsulfatase A deficiency
    • MLD
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Infancy
  • ICD-10: E75.2
  • OMIM: 156310  249900  250100
  • UMLS: C0023522  C2713319
  • MeSH: C538597  D007966
  • GARD: 3230
  • MedDRA: 10067609

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.