Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts.
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.
D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics; D002353:Carrier State / Q000175:diagnosis; D002478:Cells, Cultured; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D005227:Fatty Acids / Q000032:analysis*; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D014960:X Chromosome
D005227:Fatty Acids