Detection of adrenoleukodystrophy by increased C26:0 fatty acid levels in leukocytes.
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.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008297:Male
D005227:Fatty Acids