title: [Research progress in hypoxanthine-guanine phosphoribosyltrans-ferase].
abstract: Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is a cytoplasmic enzyme which is widely distributed in the body. It not only involves in the purine salvage pathway, but also relates to the metabolism of purine analogues drugs. It is a critical transferase regulating the pharmacological effects and toxicity of purine analogues drugs. The mutations of the gene for HPRT, which influence its activity, may cause metabolic diseases with different clinical symptoms, and influence the metabolism of purine analogues. The HPRT gene, also a housekeeping gene, can serve diagnostic markers for many disorders. This paper reviews the recent progresses on HPRT researches in promoting the individual treatment of analogues drugs and the development of new drugs and improving the diagnosis and therapy of inherited metabolic disease caused by HPRT mutations.
authors: Insitute of Pediatrics Research, Shenzhen Children's Hospital of Chongqing Medical University, Shenzhen 518026, China E-mail: dinghuirizhao@163.com.
authors: Hui
authors: H
authors: Ding
authors: Li-Jie
authors: LJ
authors: Yue
authors: Chun-Lan
authors: CL
authors: Yang
mesh_terms: D006147:Guanine; D006801:Humans; D019271:Hypoxanthine; D007041:Hypoxanthine Phosphoribosyltransferase; D007926:Lesch-Nyhan Syndrome; D009154:Mutation
chemical_list: D019271:Hypoxanthine; D006147:Guanine; D007041:Hypoxanthine Phosphoribosyltransferase