[From gene to disease; X-linked adrenoleukodystrophy]

Ned Tijdschr Geneeskd. 2008 Apr 5;152(14):804-8.
[Article in Dutch]

Abstract

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / metabolism*
  • Fatty Acids / metabolism*
  • Genetic Diseases, X-Linked*
  • Humans
  • Lipid Peroxidation / genetics*
  • Oxidation-Reduction
  • Peroxisomes / metabolism

Substances

  • Fatty Acids