A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate

N Guffon, C Vianey-Saban, J Bourgeois, D Rabier, J P Colombo, P Guibaud
Journal of Inherited Metabolic Disease 1995, 18 (1): 61-5
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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