Steroid-sulfatase deficiency in sex-linked ichthyosis.
Steroid-sulfatase activity was absent in the cultured fibroblasts of nine affected members of eight families with sex-linked ichthyosis. An intermediate value of enzyme activity was found in an obligate heterozygote and a normal value in a patient with ichthyosis vulgaris. Cultured epidermal cells of an affected individual also had no enzyme activity, while normal cultured epidermal cells did.
D046508:Culture Techniques; D003687:Dehydroepiandrosterone; D004789:Enzyme Activation; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology* / Q000235:genetics; D008297:Male; D012730:Sex Chromosomes / Q000201:enzymology*; D012867:Skin / Q000201:enzymology; D013429:Sulfatases / Q000172:deficiency*
D003687:Dehydroepiandrosterone; D013429:Sulfatases