8A44.1 Adrenoleukodystrophy

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01


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.

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