Catalog
Adrenoleukodystrophy
Link to WHO Definition
Adrenoleukodystrophy – http://id.who.int/icd/entity/1085655586
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.