Adrenoleukodystrophy

Adrenoleukodystrophy is a rare genetic condition characterized by impaired metabolism of very long-chain fatty acids (VLCFAs), leading to their accumulation in various tissues, particularly the nervous system and adrenal glands. This accumulation arises from mutations in the ABCD1 gene, which encodes a peroxisomal membrane protein involved in VLCFA transport and degradation. Although earlier reports in the 1900s described clinical presentations suggestive of this disease, the terminology and pathophysiology were not clarified until the 1970s. The brain, spinal cord, adrenal glands, and testes are the most commonly affected organs. Clinical manifestations of adrenoleukodystrophy vary widely but usually include the combination of progressive neurological dysfunction and adrenal insufficiency.