A Case of Lesch-Nyhan Syndrome.
- Author:
Joon Sung KIM
1
;
Jae Seung LEE
;
Ha Young NOH
;
Byung Ju KIM
;
Young Jong WOO
;
Jee Min PARK
;
Myung Gwan KIM
;
Gu Hwan KIM
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. drkimjs@hanmail.net
- Publication Type:Case Report
- Keywords:
Lesch-Nyhan syndrome;
Hypoxanthine guanine phosphoribosyl transferase(HPRT) gene;
Hyperuricemia;
Nephrolithiasis
- MeSH:
Adenosine;
DNA, Complementary;
Erythrocytes;
Failure to Thrive;
Humans;
Hyperuricemia;
Hypoxanthine Phosphoribosyltransferase;
Infant;
Intellectual Disability;
Lesch-Nyhan Syndrome*;
Male;
Muscle Spasticity;
Nephrolithiasis;
Self-Injurious Behavior;
Vomiting
- From:Journal of the Korean Pediatric Society
2003;46(5):505-509
- CountryRepublic of Korea
- Language:Korean
-
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.