RESUMEN

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.

Asunto(s)

Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I/tratamiento farmacológico , Glutamatos/uso terapéutico , Glutamina/sangre , Urea/metabolismo , Adolescente , Adulto , Amoníaco/sangre , Enfermedad por Deficiencia de Carbamoil-Fosfato Sintasa I/sangre , Niño , Preescolar , Femenino , Humanos , Modelos Lineales , Masculino , Espectrometría de Masas , Resultado del Tratamiento , Adulto Joven