What is Carbamoyl Phosphate Synthetase 1 Deficiency?

Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), a rare type of urea cycle disorder (UCD), arises from an inborn error of metabolism. It is a genetic disorder of the CPS1 enzyme and follows the autosomal recessive mode of inheritance. CPS1D often leads to multiple episodes of hyperammonemia, i.e., toxic levels of ammonia in the blood. The neonatal-onset patient with CPS1D usually appears healthy at birth but quickly deteriorates into severe symptoms. CPS1D is currently being treated in accordance with the recommendations for UCDs. The condition is expected to impact one in every 300,000 to one in every 1.3 million babies.