A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE

N-Acetylglutamate synthase (NAGS) deficiency is a rare, autosomal rece ssive urea-cycle disease. Its clinical presentation is not different f rom the other hereditary hyperammonaemias. We report a new neonatal ca se with hyperammonaemic coma. A test by carbamylglutamate was performe d at 25 days of life. Since then, the child was treated by carbamylglu tamate 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 developmen t and good metabolic balance.