A Case of Lesch-Nyhan Syndrome
Journal of the Korean Pediatric Society
; : 505-509, 2003.
Article
en Ko
| WPRIM
| ID: wpr-39749
Biblioteca responsable:
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.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Vómitos
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Adenosina
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Conducta Autodestructiva
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ADN Complementario
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Hiperuricemia
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Eritrocitos
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Nefrolitiasis
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Insuficiencia de Crecimiento
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Hipoxantina Fosforribosiltransferasa
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Síndrome de Lesch-Nyhan
Límite:
Humans
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Infant
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Male
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Año:
2003
Tipo del documento:
Article