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Genetic and Rare Diseases Information Center (GARD)

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Ornithine transcarbamylase deficiency


Other Names for this Disease

  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Mutations in the OTC gene cause OTC deficiency. OTC deficiency is an X-linked disorder.[1]
Last updated: 6/3/2011

References

  1. Ornithine transcarbamylase deficiency. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 3/4/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ornithine transcarbamylase 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 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

  • !LINK! 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.
  • 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 Ornithine transcarbamylase deficiency. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.