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Up to: Hypoxanthine-guanine phosphoribosyltransferase deficiency
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.
This condition has no sub-types.