Prospective management of a child with neonatal citrullinemia.

Melnyk, A R; Matalon, R; Henry, B W; Zeller, W P; Lange, C

Melnyk, A R; Matalon, R; Henry, B W; Zeller, W P; Lange, C.

Afiliação

Melnyk AR; Department of Pediatrics, Loyola University Chicago Stritch School of Medicine, Maywood, Illinois 60062.

J Pediatr ; 122(1): 96-8, 1993 Jan.

Article em En | MEDLINE | ID: mdl-8419623

RESUMO

A patient with neonatal citrullinemia caused by severe deficiency of argininosuccinate synthetase was treated prospectively according to the currently accepted protocol. We gradually reduced the doses and then discontinued treatment with sodium benzoate and phenylacetate; blood glutamine levels were maintained in the normal range, but ammonia was mildly elevated. Growth and development progressed normally through 31 months of age. Some patients with citrullinemia can be successfully managed without daily sodium benzoate and phenylacetate therapy.

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico; Citrulina/sangue; Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia; Amônia/sangue; Arginina/sangue; Arginina/uso terapêutico; Argininossuccinato Sintase/deficiência; Benzoatos/uso terapêutico; Ácido Benzoico; Desenvolvimento Infantil; Pré-Escolar; Feminino; Humanos; Lactente; Recém-Nascido; Fenilacetatos/uso terapêutico

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Citrulina / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Guideline Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 1993 Tipo de documento: Article País de publicação: Estados Unidos

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