Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Abstract excerpt

N-acetylglutamate synthase (NAGS) is a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate, an essential allosteric activator of carbamyl phosphate synthetase I, the first enzyme of the urea cycle. Liver NAGS deficiency has previously been found in a small number of patients with hyperammonemia. The mouse and human NAGS genes have recently been cloned and expressed in our laboratory. We...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acetyltransferases
• Share to Adenine