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

Abstract : 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.
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Submitted on : Friday, July 17, 2020 - 10:27:43 AM
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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, Elsevier, 2020, 22, pp.100558. ⟨10.1016/j.ymgmr.2019.100558⟩. ⟨hal-02472236⟩

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