N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.
Morris
A A
AA
Royal Victoria Infirmary, Newcastle-upon-Tyne, UK.
Richmond
S W
SW
Oddie
S J
SJ
Pourfarzam
M
M
Worthington
V
V
Leonard
J V
JV
D000123:Acetyltransferases / Q000172:deficiency*; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood; D002956:Citrulline / Q000097:blood; D003241:Consanguinity; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D005973:Glutamine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008930:Mitochondria, Liver / Q000201:enzymology
D004044:Dietary Proteins; D005971:Glutamates; D005973:Glutamine; C006895:N-carbamylglutamate; D002956:Citrulline; D000641:Ammonia; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human