RESUMEN

In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequently confirmed N-acetylglutamate synthase deficiency, hyperammonemia normalized within 8 hours. This test may be useful in the early diagnosis of patients with suspected urea cycle disorders.

Asunto(s)

Acetiltransferasas/deficiencia , Glutamatos/uso terapéutico , Hiperamonemia/tratamiento farmacológico , N-Acetiltransferasa de Aminoácidos , Resultado Fatal , Femenino , Humanos , Hiperamonemia/diagnóstico , Lactante , Recién Nacido , Masculino