hypoxanthine-guanine phosphoribosyltransferase
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme that plays a crucial role in the purine salvage pathway, which recycles purines for nucleotide synthesis. It catalyzes the transfer of a phosphoribosyl group from phosphoribosyl pyrophosphate (PRPP) to hypoxanthine or guanine, converting them into inosine monophosphate (IMP) and guanosine monophosphate (GMP), respectively. This process helps maintain the balance of purine nucleotides in cells.
Deficiency in HGPRT can lead to Lesch-Nyhan syndrome, a genetic disorder characterized by neurological and behavioral issues, as well as self-injurious behavior. The lack of this enzyme results in the accumulation of uric acid, leading to gout and kidney problems. Understanding HGPRT is essential for studying these metabolic pathways and their