A novel mutation at a ligand-binding site of hypoxanthine-guanine phosphoribosyl transferase, p.Y105C (HPRT(HongKong)), in a Chinese teenager with recurrent gouty arthritis.

摘要

Dear Editor, Hypoxanthine-guaninephosphoribosyl transferase (HPRT1) is a purine salvage enzyme which catalyzes the transfer of the phosphoribosyl moiety of hypoxanthine and guanine to form inosine monophosphate and guanosine monophosphate respectively. Patients with HPRT1 deficiency have been classified into 3 groups: (1) Classic Lesch-Nyhan disease (LND); (2) HPRT1-related neurological dysfunction (HRND); and (3) HPRTl-related hyperuricemia (HRH) . A complete loss of HPRT1 activity will cause LND while a partial loss of HPRT1 activity will result in HRHD and HRH . LND is manifested as childhood-onset severe neurological symptoms including self-mutilating behavior and hyperuricemia. Self-injurious behavior is absent in HRND and HRH patients, however, HRND patients will have neurological symptoms such as dystonia and impaired cognitive disability. We report the molecular investigation, of a Chinese patient with HRH.