Human hyperargininemia: a mutation not expressed in skin fibroblasts?
Arginase specific activity in the fibroblasts from three hyperargininemia patients is similar to that in controls. Kinetic features, pH-optimum, effect of Mn++, apparent Km values and DEAE- and CM-cellulose chromatography isozymes are identical in either cell type. The arginase gene functional in fibroblasts may be unrelated to the cause of hyperargininemia in humans. The latter mutation may solely affect the arginase of erythrocytes.
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D001119:Arginase / Q000097:blood; D001120:Arginine / Q000097:blood*; D002478:Cells, Cultured; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D020162:Hyperargininemia; D007527:Isoenzymes / Q000097:blood / Q000172:deficiency; D008297:Male; D009154:Mutation; D012867:Skin / Q000166:cytology
D007527:Isoenzymes; D001120:Arginine; D001119:Arginase