The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea
Journal of the Korean Society of Neonatology
;
: 143-147, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-147652
ABSTRACT
Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and coma after 24 to 72 hours of birth. We describe a rare case of ASAuria in a female neonate who presented with severe hyperammonemia, a typical characteristic of urea cycle disorders. This patient's diagnosis was confirmed by biochemical analyses, and we found that the patient had a point mutation of the argininosuccinate lyase gene, which was homozygous for a novel 556C>T substitution. We have never seen the neonatal form of ASAuria in Korea. Therefore, this is the first report of neonatal onset ASAuria in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Argininossuccinato Liase
/
Mutação Puntual
/
Coma
/
Estado de Consciência
/
Hiperamonemia
/
Parto
/
Letargia
/
Distúrbios Congênitos do Ciclo da Ureia
/
Acidúria Argininossuccínica
/
Coreia (Geográfico)
Limite:
Feminino
/
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2011
Tipo de documento:
Artigo
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