A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
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.
Guffon
N
N
Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Vianey-Saban
C
C
Bourgeois
J
J
Rabier
D
D
Colombo
J P
JP
Guibaud
P
P
D000123:Acetyltransferases / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000201:enzymology / Q000652:urine; D000596:Amino Acids / Q000652:urine; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000652:urine; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D000596:Amino Acids; D005971:Glutamates; C006895:N-carbamylglutamate; D000641:Ammonia; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human