Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.
D000641:Ammonia / Q000097:blood; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency*; D008099:Liver / Q000201:enzymology; D008297:Male
D000641:Ammonia; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia)