carbamoyl phosphate synthetase I deficiency disease

Rare Disease

MONDO:0009376

Also Known As

CPS I deficiencyCPS1 deficiencyCPS1Dcarbamoyl phosphate synthetase I deficiency diseasecarbamoyl phosphate synthetase deficiencycarbamoyl-phosphate synthase deficiency diseasecarbamoyl-phosphate synthetase I deficiencycarbamoyl-phosphate synthetase deficiencycarbamoylphosphate synthetase I deficiencyCPS 1 deficiencycarbamoyl phosphate synthetase 1 deficiencycarbamoyl phosphate synthetase 1 deficiency, hyperammonemia due tocarbamoyl phosphate synthetase I deficiency, hyperammonemia due tocarbamoyl-phosphate synthetase 1 deficiencycarbamyl phosphate synthetase (CPS) deficiencyhyperammonemia due to carbamoyl phosphate synthetase 1 deficiency

Definition

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.