The Diagnosis And Treatment Of X-linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy(X-ALD)is the most common peroxisomal disease,is an X-linked recessive genetic disease.This disease is caused by the accumulation of very long-chain fatty acids(VLCEA)in tissues and organs,and further the accumulation is due to mutations in the ABCD1 gene which is responsible for encoding the peroxisomal membrane protein ALDP.The clinical manifestations are diverse,mainly is the central nervous system progressive demyelination Lesions,with or without adrenal insufficiency,there is no specific treatment nowadays,the main treatment,including hormone replacement therapy,diet therapy,allogeneic hematopoietic stem cell transplantation,drug-induced gene therapy.This article focuses on the diagnosis and treatment of adrenoleukodystrophy,aims to improve the clinician's skills towards diagnosis and treatment of the disease.