Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

N-acetyl glutamate synthase (NAGS) deficiency is the rarest urea cycle defect presenting as neonatal onset life-threatening hyperammonemia. We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and...

Full description

Bibliographic Details
Main Authors: Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent, Caroline Moreau
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S221442691930179X

Internet

http://www.sciencedirect.com/science/article/pii/S221442691930179X

Similar Items