Diagnosis and managements of X - linked adrenoleukodystrophy

Adrenoleukodystrophy (ALD, OMIM# 300100) is one of the most common peroxisomal disease.It is a kind of X-linked genetic disorder.The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal membrane protein(ALDP). A defect in ALDP results in very long-chain fatty acids can not be transported from the cytosol into the peroxisome and impaired accumulation of very long chain fatty acid(VLCFA)-CoA esters in the white matter of the brain, the spinal cord and adrenal cortex.The clinical spectrum in males with X-ALD ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.Corticosteroid replacement therapy is essential and life saving treatment, bone marrow transplantation (BMT) is an option for boys and adolescents in early stages.This review focus on the genetic pathology, diagnosis and managements of patients with X-ALD and provides a guideline for clinicians. Key words: X-linked adrenoleukodystrophy; ABCD1 gene; Childhood cerebral adrenoleukodystrophy; Very long chain fatty acid; Demyelination