X-linked Adrenoleukodystrophy

X-ALD is a peroxisomal disorder caused by ABCD1 gene mutations, leading to accumulation of very-long-chain fatty acids. Clinical phenotypes include cerebral demyelination, adrenomyeloneuropathy, and adrenal insufficiency. Pathophysiology involves demyelination and neuroinflammation. Diagnosis relies on plasma VLCFA measurement, MRI, and genetic testing. Management includes hematopoietic stem cell transplantation, adrenal hormone replacement, and supportive care; prognosis varies with phenotype and early intervention.