Hypoxanthine guanine phosphoribosyltransferase partial deficiency

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, Kelley-Seegmiller syndrome, hyperuricemia, HRPT-related, X-linked recessive, hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency

1 clinical trial for this condition and its sub-types, 0 tagged with Hypoxanthine guanine phosphoribosyltransferase partial deficiency itself.