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A Case of Citrullinemia Controlled by Diet and Arginine
Article de Ko | WPRIM | ID: wpr-73916
Bibliothèque responsable: WPRO
ABSTRACT
Citrullinemia is an inborn error of urea cycle metabolism caused by deficiency of arginosuccinate synthetase. It is characterized by hyperammonemia and high citrulline level in serum, CSF and urine. The clinical symptoms include vomiting, lethargy, seizure, coma and ultimately death if hyperammonemia is not controlled. We report a case of 9- day old male with citrullinemia who was initially treated with sodium benzoate during acute stage followed by gradual weaning to discontinuation. Hyperammonemia was well controlled by low protein milk diet and arginine.
Sujet(s)
Mots clés
Texte intégral: 1 Indice: WPRIM Sujet Principal: Arginine / Crises épileptiques / Urée / Vomissement / Sevrage / Citrulline / Coma / Benzoate de sodium / Citrullinémie / Hyperammoniémie Limites du sujet: Humans / Male langue: Ko Texte intégral: Journal of the Korean Society of Neonatology Année: 1999 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Arginine / Crises épileptiques / Urée / Vomissement / Sevrage / Citrulline / Coma / Benzoate de sodium / Citrullinémie / Hyperammoniémie Limites du sujet: Humans / Male langue: Ko Texte intégral: Journal of the Korean Society of Neonatology Année: 1999 Type: Article