Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes

Clin Chim Acta. 1982 Nov 10;125(3):299-305. doi: 10.1016/0009-8981(82)90260-1.

Abstract

Very long chain fatty acids of peripheral blood leukocytes were analyzed by gas chromatography in nine members of a family including two hemizygotes and one obligate heterozygote for adrenoleukodystrophy (ALD), as well as in twelve controls. Comparative investigations were done in cultured fibroblasts. Elevated C26:0 levels were observed in leukocytes and fibroblasts of ALD hemizygotes. The obligate heterozygote displayed a clear-cut increase of C26:0 concentration in leukocytes but not in fibroblasts. Determination of C26:0 in leukocytes may serve as diagnostic tool in the detection of ALD gene carriers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / metabolism
  • Cells, Cultured
  • Child
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Fatty Acids / metabolism*
  • Female
  • Fibroblasts / metabolism
  • Genetic Carrier Screening / methods*
  • Humans
  • Leukocytes / metabolism*
  • Male

Substances

  • Fatty Acids