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Hypoxanthine guanine phosphoribosyltransferase partial deficiency
rareKelley-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.
- Identifiers
- MONDO:0010299 OMIM:300323Orphanet:79233
- Causal genes
- HPRT1
- Also known as
- HPRT deficiency, grade I · HPRT partial deficiency · HPRT-related gout · HPRT-related hyperuricemia · HPRT1 partial deficiency
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