A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate

Abstract

N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal recessive urea-cycle disease. Its clinical presentation is not different from the other hereditary hyperammonaemias. We report a new neonatal case with hyperammonaemic coma. A test by carbamylglutamate was performed at 25 days of life. Since then, the child was treated by carbamylglutamate… (More)
DOI: 10.1007/BF00711374

Topics

1 Figure or Table

Cite this paper

@article{Guffon1995ANN, title={A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate}, author={Nathalie Guffon and Christine Vianey-Saban and J. Bourgeois and Daniel Rabier and J. P. Colombo and Pierre Guibaud}, journal={Journal of Inherited Metabolic Disease}, year={1995}, volume={18}, pages={61-65} }