A Case of Citrullinemia Diagnosed at the Neonatal Period
Journal of the Korean Pediatric Society
; : 524-528, 2002.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-150330
Biblioteca responsável:
WPRO
ABSTRACT
Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical symptoms are vomiting, lethargy or irritability, convulsion and mental retardation. The diagnosis is made by the finding of an increased plasma citrulline level. Every effort should be made to reduce the blood ammonia level as rapidly as possible before irreversible brain damage occurs. This report describes a case of citrullinemia that was diagnosed through organic acid analysis and amino acid analysis, and reviews the related literatures.
Texto completo:
Disponível
Contexto em Saúde:
ODS3 - Saúde e Bem-Estar
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ODS3 - Meta 3.4 Reduzir as mortes prematuras devido doenças não transmissíveis
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ODS3 - Meta 3.2 Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
Problema de saúde:
Meta 3.2: Reduzir as mortes de recém nascidos e crianças com menos de 5 anos
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Doenças do Sistema Endócrino
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Epilepsia
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Saúde Mental e Transtornos do Comportamento
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Cuidados de Saúde Neonatal
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ácido Argininossuccínico
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Plasma
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Convulsões
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Ureia
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Vômito
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Encéfalo
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Citrulina
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Citrulinemia
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Diagnóstico
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Letargia
Tipo de estudo:
Estudo diagnóstico
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
2002
Tipo de documento:
Artigo