RESUMO
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 JovemRESUMO
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) can be detected through newborn screening with tandem mass spectrometry. We report a patient who died as a result of severe brain injury due to hypoglycemia. Newborn screening was normal. Postmortem enzyme analysis and molecular testing confirmed the diagnosis of VLCADD.
Assuntos
Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Triagem Neonatal , Espectrometria de Massas em Tandem , Reações Falso-Negativas , Evolução Fatal , Feminino , Humanos , Hipoglicemia/etiologia , Lactente , Recém-NascidoRESUMO
In a patient with N-acetylglutamate synthase (NAGS) deficiency, incorporation of an isotopic label from ammonium chloride into urea was markedly reduced before treatment with N-carbamyl-L-glutamate (NCLG) and completely normalized following treatment. Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment.