Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.
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.
Guffon
Nathalie
N
Maladies Métaboliques, Hôpital Edouard Herriot, Lyon, France. nathalie.guffon@chu-lyon.fr
Schiff
Manuel
M
Cheillan
David
D
Wermuth
Bendicht
B
Häberle
Johannes
J
Vianey-Saban
Christine
C
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
D005971:Glutamates; C006895:N-carbamylglutamate; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human