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Metachromatic leukodystrophy

Disease definition

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

ORPHA:512

  • 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

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