N-acetylglutamate synthetase (NAGS) deficiency.
Colombo
J P
JP
Dept. of Clinical Chemistry, Inselspital, University of Berne, Switzerland.
D000123:Acetyltransferases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology*; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000378:metabolism*; D000818:Animals; D006801:Humans; D014508:Urea / Q000652:urine
D000641:Ammonia; D014508:Urea; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human