N-Acetylglutamate Synthetase Deficiency: A Disorder of Ammonia Detoxication

Abstract

To the Editor: The formation of N-acetylglutamate, which is a known activator of carbamylphosphate synthetase, is catalyzed in the liver by mitochondrial N-acetylglutamate synthetase. We wish to report on a hyperammonemic patient with a deficiency of this enzyme.Two siblings of the patient died during the neonatal period; another is well. Post-mortem analysis in the second sibling suggested hyperammonemia. Elective cesarean section was performed in the fourth pregnancy at 38 weeks; a boy weighing 3200 g was delivered with no complications. Because of the family history, the patient was carefully monitored. On the third day, while the patient was still . . .