N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
Hinnie
J
J
Department of Clinical Biochemistry, Glasgow Royal Infirmary, UK.
Colombo
J P
JP
Wermuth
B
B
Dryburgh
F J
FJ
D000123:Acetyltransferases / Q000172:deficiency*; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood; D001927:Brain Diseases / Q000209:etiology; D003241:Consanguinity; D005334:Fever; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D010264:Paraplegia / Q000209:etiology
D005971:Glutamates; C006895:N-carbamylglutamate; D000641:Ammonia; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human