A Case of Propionic Acidemia
Journal of the Korean Pediatric Society
;
: 901-907, 1999.
Artigo
em Coreano
| WPRIM
| ID: wpr-186767
ABSTRACT
Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Espectrometria de Massas
/
Cromatografia Gasosa
/
Hiperamonemia
/
Desidratação
/
Metilmalonil-CoA Descarboxilase
/
Diagnóstico
/
Dietilpropiona
/
Acidemia Propiônica
/
Coreia (Geográfico)
/
Metabolismo
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1999
Tipo de documento:
Artigo
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