title: Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
abstract: 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.
authors.affiliation: Maladies Métaboliques, Hôpital Edouard Herriot, Lyon, France. nathalie.guffon@chu-lyon.fr
authors.forename: Nathalie
authors.initials: N
authors.lastname: Guffon
authors.forename: Manuel
authors.initials: M
authors.lastname: Schiff
authors.forename: David
authors.initials: D
authors.lastname: Cheillan
authors.forename: Bendicht
authors.initials: B
authors.lastname: Wermuth
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Christine
authors.initials: C
authors.lastname: Vianey-Saban
mesh_terms: D000123:Acetyltransferases / Q000172:deficiency*; D051046:Amino-Acid N-Acetyltransferase; D017809:Fatal Outcome; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000188:drug therapy*; D007223:Infant; D007231:Infant, Newborn; D008297:Male
chemical_list: D005971:Glutamates; C006895:N-carbamylglutamate; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human