Electrophoretic variation in the partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Mutant hypoxanthine-guanine phosphoribosyltransferase from four patients with a partial deficiency of this enzyme has been studied by isoelectric focusing. The isoenzymes found in these hemolysates were different from the normal isoenzymes and were different from each other. These observations suggest that electrophoretic variation is a common occurrence in this disorder and they support the existence of structural gene mutations with genetic heterogeneity in this X-linked hyperuricemia.
D001797:Blood Protein Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency*; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000097:blood; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology
D007527:Isoenzymes; D007041:Hypoxanthine Phosphoribosyltransferase