8A44.4

ICD-11 MMS 2026-01

Krabbe disease

Description

Krabbe disease, also called globoid cell leukodystrophy, is a sphingolipidosis resulting from galactosylceramidase (or galactocerebrosidase) deficiency, a lysosomal enzyme that catabolizes a major lipid component of myelin. The disease leads to demyelination of the central and peripheral nervous system which is rapidly progressive from the first year of life, but juvenile, adolescent or adult onset forms have also been reported, with a more variable rate of progression.

Index terms

  • Krabbe disease
  • Diffuse globoid body sclerosis
  • Galactocerebrosidase deficiency
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  • Galactosylceramide beta-galactosidase deficiency
  • Globoid cell leukodystrophy
  • Krabbe brain sclerosis
  • Krabbe's leukodystrophy
  • Infantile Krabbe disease
  • Classic Krabbe disease
  • Congenital Krabbes syndrome
  • Early-onset Krabbe disease
  • Late-infantile or juvenile Krabbe disease
  • Adult Krabbe disease

Exclusions from above levels

  • 05 – Endocrine, nutritional or metabolic diseases
  • 18 – Complications of pregnancy, childbirth and the puerperium
  • 19 – Certain conditions originating in the perinatal period
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  • 22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

  • 8A44.0 – Pelizaeus-Merzbacher disease
  • 8A44.1 – Adrenoleukodystrophy
  • 8A44.2 – Alexander disease
  • 8A44.3 – Certain specified leukodystrophies
  • 8A44.Z – Leukodystrophies, unspecified

Foundation entity

Krabbe disease – http://id.who.int/icd/entity/796317173

Part of: 8A44: Leukodystrophies › 08: Diseases of the nervous system