Krabbe disease

Orpha code: 487OMIM code: 611722

Definition

A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterized by neurodegeneration with severity depending on the age of onset (infantile, late-infantile, juvenile, adolescent and adulthood).

Disease data
Classification

Disease

Synonyms
Leukodystrofia globoidalna
GALC deficiency
Niedobór galaktocerebrydazy
Niedobór galaktozyloceramidazy
Niedobór GALC
Galactocerebrosidase deficiency
Galactosylceramidase deficiency
Globoid cell leukodystrophy
ORPHA code
487
OMIM code
611722
ICD10 code
E75.2
ICD11 code
8A44.4

No additional description.

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