Identification of female carriers of adrenoleukodystrophy.
The concentrations of very long chain fatty acids in plasma and cultured skin fibroblasts were studied in 96 women who were obligate heterozygotes for X-linked adrenoleukodystrophy, in 34 women who were mothers of single probands with ALD, and in 32 normal women of comparable age. Discriminant analysis was used to develop a classification function for the plasma values. With this function, plasma values in 88% of the women who were obligate heterozygotes for ALD and 77% of the mothers of single probands were identified as abnormal. With subsequent inclusion of the fibroblast assay data, abnormal plasma values were found in 93% of the obligate heterozygotes.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D012867:Skin / Q000032:analysis
D005227:Fatty Acids