Journal of the Korean Pediatric Society 2003;46(5):505-509.
Published online May 15, 2003.
A Case of Lesch-Nyhan Syndrome
Joon-Sung Kim1, Jae-Seung Lee2, Ha-Young Noh1, Byung-Ju Kim1, Young-Jong Woo1, Jee-Min Park2, Myung-Gwan Kim2, Gu-Hwan Kim3, Han-Wook Yoo3
1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
2Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea
3Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea
Lesch-Nyhan 증후군 1례
김준성1, 이재승2, 노하영1, 김병주1, 우영종1, 박지민2, 김명관2, 김구환3, 유한욱3
1전남대학교 의과대학 소아과학교실
2연세대학교 의과대학 소아과학교실
3서울아산병원 소아과 의학유전학 클리닉 및 검사실
Correspondence: 
Joon-Sung Kim, Email: drkimjs@hanmail.net
Abstract
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 work-up revealed hyperuricemia, hyperuricosuria, and medullary nephrolithiasis. The HPRT activity in the erythrocytes was undetectable with a biochemical assay. We also identified de novo mutation which was a deletion of the 649th base, adenosine, in HPRT gene(649delA) by analysis of cDNA using RT-PCR technique coupled with direct sequencing.
Key Words: Lesch-Nyhan syndrome, Hypoxanthine guanine phosphoribosyl transferase(HPRT) gene, Hyperuricemia, Nephrolithiasis


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