Carbamoyl phosphate synthetase I deficiency disease

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.

Also known as: CPS1 deficiency, CPS1D, carbamoyl phosphate synthetase I deficiency disease, carbamoyl phosphate synthetase deficiency, carbamoyl-phosphate synthase deficiency disease, carbamoyl-phosphate synthetase I deficiency, carbamoyl-phosphate synthetase deficiency, carbamoylphosphate synthetase I deficiency

5 clinical trials for this condition and its sub-types.