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Carbamoyl phosphate synthetase 1 deficiency


Other Names for this Disease
  • Carbamoyl-phosphate synthase 1 deficiency
  • Carbamoyl-phosphate synthase deficiency
  • Carbamoyl-phosphate synthetase 1 deficiency
  • Carbamoyl-phosphate synthetase deficiency
  • Carbamyl phosphate synthetase (CPS) 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. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Carbamoyl-phosphate synthase 1 deficiency
  • Carbamoyl-phosphate synthase deficiency
  • Carbamoyl-phosphate synthetase 1 deficiency
  • Carbamoyl-phosphate synthetase deficiency
  • Carbamyl phosphate synthetase (CPS) deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.