A Case of Lesch-Nyhan Syndrome
Journal of the Korean Pediatric Society
; : 505-509, 2003.
Article
in Ko
| WPRIM
| ID: wpr-39749
Responsible library:
WPRO
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
Full text:
1
Index:
WPRIM
Main subject:
Vomiting
/
Adenosine
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Self-Injurious Behavior
/
DNA, Complementary
/
Hyperuricemia
/
Erythrocytes
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Nephrolithiasis
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Failure to Thrive
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Hypoxanthine Phosphoribosyltransferase
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Lesch-Nyhan Syndrome
Limits:
Humans
/
Infant
/
Male
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
2003
Type:
Article