J Korean Pediatr Soc.
2003 May;46(5):505-509.
A Case of Lesch-Nyhan Syndrome
- Affiliations
-
- 1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. drkimjs@hanmail.net
- 2Department of Pediatrics, College of Medicine, Yonsei University, Korea.
- 3Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea.
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.
Keyword
MeSH Terms
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Lesch-Nyhan Syndrome in Two Brothers: Dental Approach to Prevent Injuries Caused by Self-mutilative Behaviors
- A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation
- General Anesthesia for Extracorporeal Shockwave Lithotripsyin Child with Lesch-Nyhan Syndrome
- Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome
- Semi-Fixed Lip Bumper in Lesch-Nyhan Syndrome: An Interim Treatment Modality
