8A44.1
Adrenoleukodystrophy
Adrenoleucodistrofia
CategoryDefinition
X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.
Index Terms
AdrenoleukodystrophyALD - [adrenoleukodystrophy]Addison-SchilderAdult-onset autosomal dominant leukodystrophyAutosomal dominant Pelizaeus-Merzbacher diseaseMultiple sclerosis-like disorderADLD - [adult-onset autosomal dominant leukodystrophy]