Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Definition
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Also known as HPRT deficiency, grade I, HPRT partial deficiency, HPRT-related gout, HPRT-related hyperuricemia, HPRT1 partial deficiency, hyperuricemia, HRPT-related, X-linked recessive, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, grade I, Kelley-Seegmiller syndrome — per MONDO