Article Dans Une Revue Molecular Genetics and Metabolism Reports Année : 2020

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

Résumé

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.
Fichier principal
Vignette du fichier
hal-02472236.pdf (258.97 Ko) Télécharger le fichier
Origine Publication financée par une institution
Loading...

Dates et versions

hal-02472236 , version 1 (17-07-2020)

Licence

Identifiants

Citer

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⟩
40 Consultations
58 Téléchargements

Altmetric

Partager

More