Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Synonyms: HPRT deficiency, grade I | HPRT partial deficiency | HPRT-related gout | HPRT-related hyperuricemia | HPRT1 partial deficiency | Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency | Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I | Kelley-Seegmiller syndrome
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term) a hereditary disorder of purine metabolism and is associated with uric acid overproduction (UAO) leading to urolithiasis and early-onset gout.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Hypoxanthine guanine phosphoribosyltransferase partial deficiency?
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