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J Rheum Dis. 2014 Aug;21(4):192-195. Korean. Case Report.
Yeo Y , Choi EY , Yoon HJ , Jung S , Kim D , Lee S , Joo KB , Jun JB .
Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.,kr
Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Department of Radiology, Hanyang University College of Medicine, Seoul, Korea.

Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.

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