A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase.
A variant form of hypoxanthine-guanine phosphoribosyl transferase has been found in a neurologically normal pediatric patient who presented with hematuria an episodes of oliguria and azotemia. The level of erythrocyte enzyme activity was 3% of normal. Electrophoretic mobility was more rapid than normal. The Km for hypoxanthine was approximately ten times normal. Immunochemical analysis indicated that the variant enzyme cross reacted with antibody to normal HPRT. A system is described for the systematic characterization of a variant HPRT.
D000906:Antibodies / Q000032:analysis; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006417:Hematuria / Q000201:enzymology / Q000209:etiology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000276:immunology; D009846:Oliguria / Q000201:enzymology / Q000209:etiology; D011247:Pregnancy; D014511:Uremia / Q000201:enzymology / Q000209:etiology; D014527:Uric Acid / Q000097:blood*
D000906:Antibodies; D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase