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Argininemia.
J Pediatr ; 90(4): 563-8, 1977 Apr.
Article em En | MEDLINE | ID: mdl-839367
The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with the total nitrogen intake limited to the requirement, controlled the hyperammonemia, reduced the plasma arginine level, and permitted a marked clinical improvement. There has been a significant increase in intelligence levels; the previously retarded children are now approaching the normal range of function.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arginina / Erros Inatos do Metabolismo dos Aminoácidos Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 1977 Tipo de documento: Article País de publicação: Estados Unidos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Arginina / Erros Inatos do Metabolismo dos Aminoácidos Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Pediatr Ano de publicação: 1977 Tipo de documento: Article País de publicação: Estados Unidos