Carbamoyl phosphate synthetase 1 deficiency

Disease Overview

Carbamoyl phosphate synthetase I deficiency (CPS1 deficiency) is a genetic disorder that causes episodes of toxic levels of ammonia in the blood (hyperammonemia). Symptoms include poor feeding, vomiting, lack of energy, low body temperature and weak muscle tone. These usually occur in the first few days of life. High levels of ammonia can lead to complications such as seizures, breathing problems, intellectual disability and coma. CPS1 deficiency is caused by alterations (mutations) in the CPS1 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on symptoms, laboratory testing, and genetic testing. Treatment is aggressive removal of excess ammonia, a protein-limited diet and specific medications.[3106][15489][15490][15491][15492]

Synonyms

• Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
• CPS 1 deficiency
• Carbamyl phosphate synthetase (CPS) deficiency