Increased excretion of N-carbamoyl compounds in patients with urea cycle defects.
Increased urinary levels of N-carbamoyl-beta-alanine, and also, on occasions, of N-carbamoylaspartate, were observed in patients with ornithine carbamoyl-transferase (EC 2.1.3.3) deficiency, argininosuccinate synthetase (EC 6.3.4.5) deficiency and argininosuccinate lyase (EC 4.3.2.1)deficiency, but not in a patient with carbamoylphosphate synthase deficiency. The relevance of these findings to the diagnosis of urea cycle defects is discussed.
D000409:Alanine / Q000031:analogs & derivatives / Q000652:urine; D001124:Argininosuccinate Synthase / Q000172:deficiency*; D056807:Argininosuccinic Aciduria; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000652:urine; D002219:Carbamates / Q000652:urine*; D002648:Child; D002675:Child, Preschool; D002854:Chromatography, Paper / Q000379:methods; D002855:Chromatography, Thin Layer / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D008025:Ligases / Q000172:deficiency*; D008190:Lyases / Q000172:deficiency*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D014508:Urea / Q000378:metabolism*
D002219:Carbamates; D001224:Aspartic Acid; D014508:Urea; D008190:Lyases; D008025:Ligases; D001124:Argininosuccinate Synthase; D000409:Alanine