RESUMO

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.

Assuntos

Hipoxantina Fosforribosiltransferase/deficiência , Ácido Úrico/sangue , Anticorpos/análise , Pré-Escolar , Eritrócitos/enzimologia , Feminino , Hematúria/enzimologia , Hematúria/etiologia , Humanos , Hipoxantina Fosforribosiltransferase/sangue , Hipoxantina Fosforribosiltransferase/imunologia , Oligúria/enzimologia , Oligúria/etiologia , Gravidez , Uremia/enzimologia , Uremia/etiologia