Hypoxanthine guanine phosphoribosyltransferase partial deficiency
MONDO:0010299Kelley-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.
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Disease
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Metabolic disease
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Hereditary disease
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Inborn errors of metabolism
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Human disease
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Disease of genetic or genomic mechanism
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Inborn disorder of purine or pyrimidine metabolism
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Disease by developmental or physiological process
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Hypoxanthine-guanine phosphoribosyltransferase deficiency
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