A Novel Mutation in ABCD1 Unveils Different Clinical Phenotypes in a Family With Adrenoleukodystrophy

J Clin Neurosci. 2017 Sep;43:175-177. doi: 10.1016/j.jocn.2017.05.025. Epub 2017 Jun 7.

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide range of phenotypic manifestations of ALD and the importance of genetic screening before any pregnancy in asymptomatic women whose carrier status is unknown.

Keywords: Peroxisome disorders; Very long chain fatty acids; X-linked adrenoleukodystrophy.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Aged
  • Child
  • Female
  • Humans
  • Male
  • Mutation
  • Pedigree

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1