label: hypoxanthine guanine phosphoribosyltransferase partial deficiency
label_lc: hypoxanthine guanine phosphoribosyltransferase partial deficiency
description: 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.