Enzymatic basis of typical X-linked icthyosis.
Steroid sulphatase activity was determined in cultured fibroblasts from 25 individuals with X-linked ichthyosis from four countries. All those with X-linked disease had markedly reduced enzyme levels compared with controls and patients with other types of ichthyosis. X-linked ichthyosis seems to be the result of a common mutation affecting the expression of steroid-sulphatase activity.
D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002788:Cholesterol Esters; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D013429:Sulfatases / Q000172:deficiency*; D014960:X Chromosome
D002788:Cholesterol Esters; D013429:Sulfatases