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Carbamoyl phosphate synthetase 1 deficiency
Other Names for this Disease
- Carbamyl phosphate synthetase (CPS) deficiency
- CPS 1 deficiency
- Hyperammonemia due to carbamoyl phosphate synthetase 1 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. Genetic Home Reference. 2006; http://www.ghr.nlm.nih.gov/condition=carbamoylphosphatesynthetaseideficiency. Accessed 2/19/2010.
- Genetics Home Reference (GHR) contains information on Carbamoyl phosphate synthetase 1 deficiency. This website is maintained by the National Library of Medicine.
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- MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Carbamoyl phosphate synthetase 1 deficiency. Click on the link to go to OMIM and review these resources.
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