title: Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
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.
authors.affiliation: 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.
authors.forename: Nicholas
authors.initials: N
authors.lastname: Ah Mew
authors.affiliation: Center for Translational Sciences, Children's National Health System, The George Washington University, Washington, DC.
authors.forename: Robert
authors.initials: R
authors.lastname: McCarter
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
authors.forename: Yevgeny
authors.initials: Y
authors.lastname: Daikhin
authors.affiliation: 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.
authors.forename: Uta
authors.initials: U
authors.lastname: Lichter-Konecki
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
authors.forename: Ilana
authors.initials: I
authors.lastname: Nissim
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.
authors.forename: Marc
authors.initials: M
authors.lastname: Yudkoff
authors.affiliation: Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.
authors.forename: Mendel
authors.initials: M
authors.lastname: Tuchman
mesh_terms: D000293:Adolescent; D000328:Adult; D000641:Ammonia / Q000097:blood; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000097:blood / Q000188:drug therapy*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D005973:Glutamine / Q000097:blood*; D006801:Humans; D016014:Linear Models; D008297:Male; D013058:Mass Spectrometry; D016896:Treatment Outcome; D014508:Urea / Q000378:metabolism*; D055815:Young Adult
chemical_list: D005971:Glutamates; D005973:Glutamine; C006895:N-carbamylglutamate; D000641:Ammonia; D014508:Urea