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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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Overview


Carbamoyl phosphate synthetase I deficiency is type of 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.[1]
Last updated: 2/19/2010

References

  1. 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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Basic Information

  • Genetics Home Reference (GHR) contains information on Carbamoyl phosphate synthetase 1 deficiency. This website is maintained by the National Library of Medicine.
  • 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.
  • The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information.  Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Carbamoyl phosphate synthetase 1 deficiency. Click on the link to view a sample search on this topic.