Research progress in diagnosis and treatment of female heterozygotes with X-linked adrenoleukodystrophy

Abstract

X-linked adrenoleukodystrophy is the most common peroxisomal disorder, which belongs to single peroxidase enzyme deficiency disease.It is caused by mutations in the ABCD1 gene and alterations in peroxisomal beta-oxidation of long chain fatty acid in plasma and tissues.It manifests a wide range of phenotypes in male and it has been frequently discussed, in which progressive myelopathy is the most common.For X-linked recessive inheri-tance, female heterozygotes are always thought to be nonpathogenic.There have been only limited studies specifically focused on the phenotype of female heterozygotes, while, these patients also need further study.This article discusses the clinical manifestations, diagnosis and treatment of female heterozygotes with X-linked adrenoleukodystrophy, to enhance people′s understanding of clinical diagnosis and treatment, and provide the basis for accurate prognosis assessment and diagnosis. Key words: X-linked adrenoleukodystrophy; Female heterozygotes; ABCD1 gene