Carbamoyl-Phosphate Synthetase I Deficiency - CISMeF
Carbamoyl-Phosphate Synthetase I DeficiencyNCIt concept
Preferred Label : Carbamoyl-Phosphate Synthetase I Deficiency;
NCIt related terms : Carbamoyl Phosphate Synthetase Deficiency;
NCIt definition : A congenital disorder caused by mutations in the CPS1 gene. It is characterized by
accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include
lethargy, seizures, developmental delay and mental disability.;