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Jae-Seung Lee  (Lee JS) 1 Article
Case Report
A Case of Lesch-Nyhan Syndrome
Joon-Sung Kim, Jae-Seung Lee, Ha-Young Noh, Byung-Ju Kim, Young-Jong Woo, Jee-Min Park, Myung-Gwan Kim, Gu-Hwan Kim, Han-Wook Yoo
Clin Exp Pediatr. 2003;46(5):505-509.   Published online May 15, 2003
Lesch-Nyhan syndrome is an X-linked recessive disorder characterized by hyperuricemia, choreoathetosis, spasticity, mental retardation, and compulsive, self-injurious behavior. This disorder results from a complete deficiency of the purine salvage enzyme, hypoxanthine-guanine phosphoribosyl transferase(HPRT). We report here on a case of Lesch-Nyhan syndrome in a 1-year, 7-month-old male who presented with frequent vomiting, failure to thrive, and developmental delay. The diagnostic...


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