Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

Clin Genet. 1982 Jul;22(1):25-9. doi: 10.1111/j.1399-0004.1982.tb01406.x.

Abstract

In cultured fibroblasts of adrenoleukodystrophy (ALD) patients and most heterozygotes, concentrations of long-chain fatty acids (greater than C22) were significantly higher than in controls when cells were assayed 4-5 days after reaching confluence. Intermediate values were found in three independent cultures of a girl with manifest ALD, suggesting that a significant proportion of her fibroblasts does not express the defect. Though long-chain fatty acid concentrations in heterozygotes were somewhat higher than expected, suggesting a slight preponderance of defective cells, it may be too early to conclude that somatic selection is a consistent finding in cultured fibroblasts of ALD carriers.

MeSH terms

  • Adrenoleukodystrophy / diagnosis*
  • Adrenoleukodystrophy / genetics
  • Carrier State / diagnosis
  • Cells, Cultured
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Fatty Acids / analysis*
  • Female
  • Fibroblasts / analysis
  • Heterozygote
  • Humans
  • X Chromosome

Substances

  • Fatty Acids