Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

Ah Mew, Nicholas; McCarter, Robert; Daikhin, Yevgeny; Lichter-Konecki, Uta; Nissim, Ilana; Yudkoff, Marc; Tuchman, Mendel

Ah Mew, Nicholas; McCarter, Robert; Daikhin, Yevgeny; Lichter-Konecki, Uta; Nissim, Ilana; Yudkoff, Marc; Tuchman, Mendel.

Afiliação

Ah Mew N; Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, DC; Division of Genetics and Metabolism, Children's National Health System, The George Washington University, Washington, DC.
McCarter R; Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, DC.
Daikhin Y; Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
Lichter-Konecki U; Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, DC; Division of Genetics and Metabolism, Children's National Health System, The George Washington University, Washington, DC.
Nissim I; Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
Yudkoff M; Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
Tuchman M; Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.

J Pediatr ; 165(2): 401-403.e3, 2014 Aug.

Article em En | MEDLINE | ID: mdl-24880889

ABSTRACT

ABSTRACT

Identical studies using stable isotopes were performed before and after a 3-day trial of oral N-carbamyl-l-glutamate (NCG) in 5 subjects with late-onset carbamyl phosphate synthetase deficiency. NCG augmented ureagenesis and decreased plasma ammonia in 4 of 5 subjects. There was marked improvement in nitrogen metabolism with long-term NCG administration in 1 subject.

Assuntos

Doença da Deficiência da Carbamoil-Fosfato Sintase I/tratamento farmacológico; Glutamatos/uso terapêutico; Glutamina/sangue; Ureia/metabolismo; Adolescente; Adulto; Amônia/sangue; Doença da Deficiência da Carbamoil-Fosfato Sintase I/sangue; Criança; Pré-Escolar; Feminino; Humanos; Modelos Lineares; Masculino; Espectrometria de Massas; Resultado do Tratamento; Adulto Jovem

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ureia / Doença da Deficiência da Carbamoil-Fosfato Sintase I / Glutamatos / Glutamina Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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