Definition: Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. Two forms of carbamoyl phosphate synthetase deficiency are recognized: a lethal neonatal type and a less severe, delayed-onset type.
Etiology
mutation in gene encoding carbamoyl phosphate synthetase I (CPS1) (MIM.608307).
See also
urea cycle diseases