Hepatic glycogen synthetase deficiency not expressed in cultured skin fibroblasts.
Cultured skin fibroblasts from two siblings with hepatic glycogen synthetase deficiency and from their parents contained glycogen synthetase activity which was within the range of the controls. The mutation was thus not expressed in fibroblasts, a finding further documenting the presumed existence of genetically different forms of glycogen synthetase.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002478:Cells, Cultured; D002648:Child; D003951:Diagnostic Errors; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006006:Glycogen Synthase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D008099:Liver / Q000201:enzymology*; D008297:Male; D009154:Mutation; D012867:Skin / Q000201:enzymology*
D006006:Glycogen Synthase