title: Partial HPRT deficiency (Kelley-Seegmiller syndrome).
abstract: Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We report a case of partial HPRT deficiency presenting as chronic tophaceous gout, mental retardation, nephrolithiasis and family history suggestive of X-linked inheritance, for its rarity.
authors.affiliation: Department of Medicine, SMS Medical College, Jaipur.
authors.forename: Renu
authors.initials: R
authors.lastname: Saigal
authors.forename: A
authors.initials: A
authors.lastname: Chakraborty
authors.forename: R N
authors.initials: RN
authors.lastname: Yadav
authors.forename: R K
authors.initials: RK
authors.lastname: Prashant
mesh_terms: D000328:Adult; D015210:Arthritis, Gouty / Q000175:diagnosis* / Q000201:enzymology; D001665:Binding Sites; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D033461:Hyperuricemia / Q000201:enzymology; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D009154:Mutation; D011687:Purines / Q000378:metabolism*; D013577:Syndrome
chemical_list: D011687:Purines; D007041:Hypoxanthine Phosphoribosyltransferase