Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Definition
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Also known as HPRT deficiency, HPRT1 deficiency, hypoxanthine-guanine phosphoribosyltransferase 1 deficiency — per MONDO