Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis.
Treatment of a patient deficient in carbamyl phosphate synthetase with benzoate or phenylacetic acid resulted in an increase in urinary nitrogen, which could be accounted for by the respective amino acid acylation product, hippurate or phenylacetylgultamine. Benzoate treatment of four hyperammonemic comatose patients led to clinical improvement and a return of plasma ammonium levels toward normal.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy*; D000596:Amino Acids / Q000097:blood; D000641:Ammonia / Q000097:blood; D001565:Benzoates / Q000627:therapeutic use*; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency*; D002648:Child; D005260:Female; D005973:Glutamine / Q000378:metabolism; D005998:Glycine / Q000378:metabolism; D006626:Hippurates / Q000652:urine; D006801:Humans; D007223:Infant; D008297:Male; D009584:Nitrogen / Q000097:blood; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D010648:Phenylacetates / Q000627:therapeutic use*; D010770:Phosphotransferases / Q000172:deficiency*
D000596:Amino Acids; D001565:Benzoates; D006626:Hippurates; D010648:Phenylacetates; D005973:Glutamine; D000641:Ammonia; D010770:Phosphotransferases; D002222:Carbamoyl-Phosphate Synthase (Ammonia); D009584:Nitrogen; D005998:Glycine