By Syed S. A.Reviewed by Danielle Ellis, B.Sc. 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,...
