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.