RESUMO

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.

Assuntos

Acetiltransferases/deficiência , Glutamatos/uso terapêutico , Ureia/metabolismo , Acetiltransferases/genética , Adolescente , Adulto , Aminoácido N-Acetiltransferase , Amônia/sangue , Cloreto de Amônio/farmacocinética , Nitrogênio da Ureia Sanguínea , Feminino , Glutamina/sangue , Humanos , Isótopos de Nitrogênio/farmacocinética