Carbamoyl phosphate synthetase 1 deficiency
Other Names for this Disease
- Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency
- CPS 1 deficiency
- Carbamyl phosphate synthetase (CPS) deficiency
- Carbamoyl-phosphate synthase 1 deficiency
- Carbamoyl-phosphate synthase deficiency
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urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.Carbamoyl phosphate synthetase I deficiency is type of
Last updated: 2/19/2010
- Carbamoyl phosphate synthetase I deficiency. Genetics Home Reference. 2006; http://www.ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetaseideficiency. Accessed 2/19/2010.
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