Summary
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 three or four times a day with a total dose of 80–100 mg/kg per day. Today, the boy is 1 year old. He receives carbamylglutamate 200 mg four times a day. He has normal somatic and neurological development and good metabolic balance.
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Guffon, N., Vianey-Saban, C., Bourgeois, J. et al. A new neonatal case ofN-acetylglutamate synthase deficiency treated by carbamylglutamate. J Inherit Metab Dis 18, 61–65 (1995). https://doi.org/10.1007/BF00711374
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DOI: https://doi.org/10.1007/BF00711374