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Pseudocholinesterase Deficiency

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pseudocholinesterase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Succinylcholine Sensitivity
  • Apnea, Postanesthetic
  • Butyrylcholinesterase
  • Cholinesterase II Deficiency
  • Pseudocholinesterase E1
  • Suxamethonium Sensitivity

Disorder Subdivisions

  • None

General Discussion

Pseudocholinesterase deficiency is an uncommon genetic disorder that makes an affected person very sensitive to any of several anesthetic agents, especially those derived from the drug known as choline. When anesthetic drugs such as succinylcholine or mivacurium are administered to a susceptible person, the muscles that work the lungs may become paralyzed. Mechanical ventilation is essential until the excess anesthetic agent is metabolized and normal breathing is resumed.

Resources

NIH/National Institute of General Medical Sciences

45 Center Drive MSC 6200

Bethesda, MD 20892-6200

Tel: (301)496-7301

Fax: (301)402-0224

Email: info@nigms.nih.gov

Internet: http://www.nigms.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/28/2008

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