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

Katell Peoc'H (1) , Lena Damaj (2) , Romain Pelletier (2) , Charles Lefevre (2) , Christèle Dubourg (2, 3) , Marie-Christine Denis (4) , Claude Bendavid (2, 5) , Sylvie Odent (3) , Caroline Moreau (2, 5)

1 Hôpital Beaujon [AP-HP]
2 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
3 IGDR - Institut de Génétique et Développement de Rennes
4 CHU Angers - Centre Hospitalier Universitaire d'Angers
5 NuMeCan - Nutrition, Métabolismes et Cancer

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 from primary care at birth, another one was diagnosed at 2-days and immediately treated with carbaglumic-acid. Finally, we report excellent tolerance to long-term carbaglumic-acid treatment, with no side effects, and healthy neurological and psychomotor development.

Mots clés: Carbaglumic acid; Hyperammonemia; N-acetylglutamate synthase deficiency; Prenatal diagnosis; Urea cycle defect

Domaines: Sciences du Vivant [q-bio]

Katell Peoc'H, Lena Damaj, Romain Pelletier, Charles Lefevre, Christèle Dubourg, et al.. Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family. Molecular Genetics and Metabolism Reports, 2020, 22, pp.100558. ⟨10.1016/j.ymgmr.2019.100558⟩. ⟨hal-02472236⟩