Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.
Complementation tests after polyethylene glycol fusion have been performed between 10 citrullinemic strains with argininosuccinate synthetase deficiency and between five strains with argininosuccinate lyase deficiency. No complementation was observed between the citrullinemic strains, while two groups of complementation were defined with the argininosuccinate lyase deficients strains. Since the restoration of activity was not total, we assumed that complementation is probably intragenic.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001120:Arginine / Q000031:analogs & derivatives*; D001124:Argininosuccinate Synthase / Q000172:deficiency*; D001125:Argininosuccinic Acid / Q000652:urine*; D056807:Argininosuccinic Aciduria; D002460:Cell Line; D002956:Citrulline / Q000097:blood*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005816:Genetic Complementation Test; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008025:Ligases / Q000172:deficiency*; D008190:Lyases / Q000172:deficiency*; D008297:Male; D011092:Polyethylene Glycols
D001125:Argininosuccinic Acid; D002956:Citrulline; D011092:Polyethylene Glycols; D001120:Arginine; D008190:Lyases; D008025:Ligases; D001124:Argininosuccinate Synthase