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Pseudocholinesterase deficiency


Other Names for this Disease

  • Apnea, Postanesthetic
  • Butyrylcholinesterase deficiency
  • Cholinesterase 2 Deficiency
  • Pseudocholinesterase E1
  • Succinylcholine Sensitivity
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Overview

Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These drugs relax the muscles used for movement, including the muscles needed for breathing. They are normally broken down by the body within a few minutes of being given, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after, therefore needing mechanical ventilation until the drugs are cleared from the body. Affected individuals may also have increased sensitivity to certain other drugs and to specific agricultural pesticides. Pseudocholinesterase deficiency can be inherited in an autosomal recessive manner and caused by mutations in the BCHE gene, or it can have non-genetic causes in which case it is called acquired pseudocholinesterase deficiency.[1]
Last updated: 10/16/2013

References

  1. Pseudocholinesterase deficiency. Genetics Home Reference. April 2012; http://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency. Accessed 2/27/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pseudocholinesterase deficiency. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it¬†provides more information about 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.
  • 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.¬†
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudocholinesterase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Apnea, Postanesthetic
  • Butyrylcholinesterase deficiency
  • Cholinesterase 2 Deficiency
  • Pseudocholinesterase E1
  • Succinylcholine Sensitivity
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.