5C56.02

ICD-11 MMS 2026-01

Metachromatic leukodystrophy

Description

Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides (sulphated glycosphingolipids, especially sulfogalactosylceramides or sulfogalactocerebrosides) in the nervous system and kidneys. Three forms of the disease exist: late infantile, juvenile and adult.

Index terms

  • Metachromatic leukodystrophy
  • Greenfield's disease (metachromatic leukodystrophy)
  • Arylsulfatase A deficiency
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  • Cerebroside sulfatase deficiency
  • Late infantile metachromatic leukodystrophy
  • Juvenile metachromatic leukodystrophy
  • Adult metachromatic leukodystrophy
  • Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency
  • Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency
  • Metachromatic leukodystrophy due to saposin B deficiency

Exclusions from above levels

  • 5C51.3 – Glycogen storage disease due to LAMP-2 deficiency
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
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  • 5A71.01 – Congenital adrenal hyperplasia
  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

Foundation entity

Metachromatic leukodystrophy – http://id.who.int/icd/entity/172326564

Part of: 5C56.0: Sphingolipidosis › 5C56: Lysosomal diseases › 05: Endocrine, nutritional or metabolic diseases