" /> Kelley-Seegmiller syndrome - CISMeF





Preferred Label : Kelley-Seegmiller syndrome;

ICD-11 definition : Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.;

ICD-11 synonym : Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT partial deficiency; Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; HPRT - [hypoxanthine-guanine phosphoribosyltransferase] partial deficiency;

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Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.

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29/07/2025


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