X-linked cerebral adrenoleukodystrophy
Engelsk navn: X-linked cerebral adrenoleukodystrophy
Engelske synonym: X-CALD
Definisjon
A progressive peroxisomal disease, characterized by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy and peripheral neuropathy, and leukodystrophy. Age of onset is highly variable, but often in the first decade.
Fra Orphanet
ORPHA: 139396
Klassifiseringsnivå: Subtype of disorder
ICD-10: E71.3