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Beschreibung

Hypoxanthine-guanine phosphoribosyltransferase (EC:2.4.2.8, UniProt P00492, also known as HGPRT, HGPRTase) is encoded by the HPRT1 (also known as HGPRT, HPRT) gene (Gene ID 3251) in human. HPRT is a purine salvage enzyme that catalyzes the condensation of 5-phosphoribosyl 1-pyrophosphate (PRPP) and hypoxanthine or guanine to form inosine 5-monophosphate (IMP) and guanosine 5-monophosphate (GMP), respectively. PRPP is an essential compound for the de novo pathway of purine synthesis as well as the synthesis of pyrimidine compounds. PRPP concentrations in erythrocyte are markedly increased in individuals with HPRT deficiency. Complete HPRT deficiency leads to Lesch-Nyhan disease (LND) characterized by uric acid overproduction, motor dysfunction, cognitive disability, and self-injurious behavior. Partial deficiency of HPRT activity causes Lesch-Nyhan variant (LNV) characterized by hyperuricemia and variable degree of neurological manifestations, depending on the residual enzyme activity.