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J Rheum Dis. 2014 Aug;21(4):192-195. Korean. Case Report. https://doi.org/10.4078/jrd.2014.21.4.192
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. junjb@hanyang.ac,kr
Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea.
Department of Radiology, Hanyang University College of Medicine, Seoul, Korea.
Abstract

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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