X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect

J Inherit Metab Dis. 1992;15(4):634-44. doi: 10.1007/BF01799620.

Abstract

The adrenoleukodystrophies refer to three genetically distinct disorders all characterized by the accumulation of very long-chain fatty acids. In this paper we will review the biochemical aspects of these leukodystrophies with particular emphasis on the methods used to measure very long-chain fatty acid levels in plasma and their reliability. Furthermore, we will concentrate on the primary defect in the X-linked form of adrenoleukodystrophy.

Publication types

  • Review

MeSH terms

  • Adrenoleukodystrophy / diagnosis
  • Adrenoleukodystrophy / genetics*
  • Coenzyme A Ligases / deficiency
  • Fatty Acids / analysis
  • Fatty Acids / metabolism
  • Humans
  • Microbodies / metabolism
  • Mitochondria / metabolism
  • Oxidation-Reduction
  • X Chromosome*

Substances

  • Fatty Acids
  • Coenzyme A Ligases