A Case of Lesch-Nyhan Syndrome
Journal of the Korean Pediatric Society
;
: 505-509, 2003.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Vômito
/
Adenosina
/
Comportamento Autodestrutivo
/
DNA Complementar
/
Hiperuricemia
/
Eritrócitos
/
Nefrolitíase
/
Insuficiência de Crescimento
/
Hipoxantina Fosforribosiltransferase
/
Síndrome de Lesch-Nyhan
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2003
Tipo de documento:
Artigo
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