Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > carbamyl phosphate synthetase deficiency
carbamyl phosphate synthetase deficiency
MIM.237300 2q35
Thursday 25 September 2008
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
