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KMID : 0388220140210040192
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Journal of the Korean Rheumatism Association
2014 Volume.21 No. 4 p.192 ~ p.195
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A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
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Yeo Yoo-Mi
Choi Eun-Young
Yoon Hye-Jin
Jung So-Dam
Kim Dam
Lee Seung-Hun
Joo Kyoung-Bin
Jun Jae-Bum
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Abstract
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Deficiency of hypoxanthine-guanine phosphoribosyltrans-ferase is a purine nucleotide disorder and is the most com-mon genetic cause of uric acid overproduction. This dis-ease has a wide range of spectrum with regard to neuro-logical 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 neuro-logical manifestation and self-mutilation. Partial hypo-xanthine-guanine phosphoribosyltransferase--deficient pa-tients are presented with a various intensities of the afore-mentioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypo-xanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
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KEYWORD
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Lesch-Nyhan, HPRT, Secondary gout
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