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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ornithine transcarbamylase deficiency


Other Names for this Disease
  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
Related Diseases
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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. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition.[1] Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.[2]
Last updated: 11/30/2015

References

  1. Roth KS. Ornithine Transcarbamylase Deficiency. Medscape Reference. August 28, 2015; http://emedicine.medscape.com/article/950672-overview. Accessed 11/28/2015.
  2. Ornithine transcarbamylase deficiency. Genetics Home Reference. June 2006; http://www.ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed 11/28/2015.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • !LINK! provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Ornithine carbamoyltransferase deficiency
  • OTC deficiency
  • OTCD
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.