Therapeutic use of carbamylglutamate in the case of carbamoyl‐phosphate synthetase deficiency

Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate

“…We therefore hypothesized that some patients with partial CPSD may respond to NCG supplementation. Current published evidence of the effect of NCG in CPS1 deficiency is limited (8-10). We report herein the results of a 3-day NCG trial in 5 subjects with late onset CPSD and document a favorable long-term outcome in one of the patients who had a positive response to the 3-day trial.…”

Neonatal Hyperammonemia: The N-carbamoyl-L-glutamic Acid Test

“…Partial CPS-1 deficiency responding to NCGA must also be considered, as previously reported. 11 On the basis of our experience, we perform NCGA testing in patients with hyperammonemia without severe acidosis, ketosis, or hypoglycemia, before the results of specific metabolic investigations are available. The following protocol is used: when hyperammonemia is documented, a blood sample is collected for a determination of ammonia and for amino acid analysis.…”

Precision medicine in rare disease: Mechanisms of disparate effects of N -carbamyl- l -glutamate on mutant CPS1 enzymes

“…Trials of NCG supplementation in patients with CPS1 deficiency are quite limited [35,49,50] and more are warranted, as are in vitro studies of recombinant CPS1 mutants. The newly developed baculovirus/insect cell expression system, which can produce a large amount of the recombinant CPS1 with desired mutations, provides a useful tool to evaluate the residual activity, protein yield and stability of CPS1 mutants.…”