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Krabbe disease

Disease definition

Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.

ORPHA:487

  • Synonym(s):
    • GALC deficiency
    • Galactocerebrosidase deficiency
    • Galactosylceramidase deficiency
    • Globoid cell leukodystrophy
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E75.2
  • OMIM: 245200  611722
  • UMLS: C0023521
  • MeSH: -
  • GARD: 6844
  • MedDRA: 10023492

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