A Case of Lesch-Nyhan Syndrome
Journal of the Korean Pediatric Society
;
: 505-509, 2003.
Article
Dans Coréen
| WPRIM
| ID: wpr-39749
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Vomissement
/
Adénosine
/
Comportement auto-agressif
/
ADN complémentaire
/
Hyperuricémie
/
Érythrocytes
/
Néphrolithiase
/
Retard de croissance staturo-pondérale
/
Hypoxanthine phosphoribosyltransferase
/
Syndrome de Lesch-Nyhan
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Pediatric Society
Année:
2003
Type:
Article
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