Successful treatment of severe carbamyl phosphate synthetase I deficiency.
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000188:drug therapy; D000641:Ammonia / Q000097:blood; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency*; D010648:Phenylacetates / Q000627:therapeutic use
D001565:Benzoates; D004044:Dietary Proteins; D010648:Phenylacetates; D000641:Ammonia; D019817:Benzoic Acid; D008025:Ligases; D002222:Carbamoyl-Phosphate Synthase (Ammonia); C025136:phenylacetic acid