Abstract
Adrenoleukodystrophy (ALD) is an X-linked disorder associated with the accumulation of saturated very long chain fatty acids, particularly hexacosanoate (C26). Cultured skin fibroblasts show an increased ratio of C26 to C22 fatty acid (Annals of Neurol. 7:542, 1980). Fibroblast clones from ALD heterozygotes show two types of cells, one with a normal C26 to C22 ratio, the other with a ratio similar to the ALD hemizygote (Migeon,B.R. et al. Am. Journal of Hum. Genetics 32:157A, 1980). We have studied a large kindred which included heterozygotes for both ALD and an electrophoretic variant for G6PD, and found that in this kindred the ALD trait was associated with the G6PDA variant. One woman known to be ALD heterozygote by clonal analysis and G6PD type A had an elective abortion for reasons unrelated to ALD. A female fetus was found to have the G6PDA electrophoretic variant, and the fetal liver contained 5-10 times more C26 than did controls. Duplicate cultured amniotic fluid cells had a C26 to C22 ratio of 1.23 and 1.75 compared to 0.167 ± .094 (SD) in 16 control cultures. Ability to identify prenatally the ALD heterozygote makes it likely that it will be possible to achieve the prenatal identification of the ALD hemizygote.
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Moser, H., Migeon, B., Norum, R. et al. 743 PRENATAL IDENTIFICATION OF AN ADRENOLEUKODYSTROPHY HETEROZYGOTE. Pediatr Res 15 (Suppl 4), 566 (1981). https://doi.org/10.1203/00006450-198104001-00766
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DOI: https://doi.org/10.1203/00006450-198104001-00766