metabolismHGPRT

MetabolismHGPRT refers to the metabolic role of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme is crucial for the purine salvage pathway, which allows cells to recycle purine bases, hypoxanthine and guanine, back into nucleotides. This recycling process is more energy-efficient than synthesizing purines de novo. HGPRT catalyzes the conversion of hypoxanthine to inosine monophosphate (IMP) and guanine to guanosine monophosphate (GMP). These products are then further metabolized to form other essential purine nucleotides.

A deficiency in HGPRT activity leads to Lesch-Nyhan syndrome, a rare genetic disorder. In this condition, the inability to salvage purines results in an overproduction of uric acid, causing hyperuricemia and gout. Additionally, individuals with Lesch-Nyhan syndrome exhibit neurological symptoms, including developmental delay, intellectual disability, and characteristic self-mutilating behaviors. The neurological impairment is thought to be related to an accumulation of purine metabolites in the brain. The enzyme's function is essential for maintaining purine homeostasis and preventing the accumulation of toxic byproducts.