Adrenoleukodystrophy

Adrenoleukodystrophy is an X-linked genetic disorder caused by mutations in the ABCD1 gene, resulting in impaired peroxisomal beta-oxidation and accumulation of very long-chain fatty acids. The disorder manifests with progressive demyelination of the central nervous system and adrenal insufficiency. Clinical features vary by phenotype and may include spastic paraparesis, cognitive decline, behavioral changes, and adrenal dysfunction. Diagnosis is confirmed through plasma very long-chain fatty acid measurement and genetic testing. Management involves adrenal hormone replacement, dietary interventions, and, in select cases, hematopoietic stem cell transplantation, with prognosis dependent on phenotype and timing of treatment.