Pseudocholinesterase Deficiency

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.

Symptoms

Individuals with pseudocholinesterase deficiency have a shortage or absence of the enzyme pseudocholinesterase in their blood serum. If the drug succinylcholine (or another anesthetic derivative of choline) is given during surgery, the respiratory muscles become paralyzed and the patient stops breathing (apnea). Artificial respiration (mechanical ventilation) may be necessary until the drug is eliminated from the body and the affected individual is able to resume breathing. If the person with pseudocholinesterase deficiency is not exposed to a choline-derived anesthetic, he or she may never be aware of having a deficiency of the enzyme pseudocholinesterase.

Causes

Pseudocholinesterase deficiency is inherited as an autosomal recessive trait. The faulty gene is located on chromosome 3 (3q26.1-q26.2).



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome, and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, 3q26.1-q26.2 refers to a region between bands 26.1 and 26.2 on the long arm of chromosome 3. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Pseudocholinesterase deficiency is present at birth and occurs in approximately 1 out of every 1,500 to 2,500 people in the United States. Among Caucasian Americans, it seems to affect males almost twice as often as females.

Standard Therapies

Diagnosis and Treatment

Testing can be done to determine the presence of pseudocholinesterase deficiency before surgery is performed. If the patient stops breathing for a prolonged period of time during surgery, artificial respiration (mechanical ventilation) can be administered until the patient is able to resume normal breathing.



People with pseudocholinesterase deficiency should warn their relatives to be tested before surgery since this is a genetic disorder. People who have relatives who have died for unknown reasons during surgery should be screened for pseudocholinesterase deficiency prior to undergoing surgery.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2574-75.



Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:75;433.



Kalow W. Grant DM. Pharmacogenetics. In: Scriver CR, Beaudet AL, Sly WS, et al. Eds. The Metabolic Molecular Basis of Inherited Disease. 8th ed. McGraw-Hill Companies. New York, NY; 2001:233-38.



JOURNAL ARTICLES

Kendrick K. Prolonged paralysis related to mivacurium: a case study. J Perianesth Nurs. 2005;20:7-12.



Kalow W. Human pharmacogenomics: the development of a science. Hum Genomics. 2004;1:375-80.



Niazi A, Leonard IE, O'Kelly B. Prolonged neuromuscular blockade as a result of malnutrition-induced pseudocholinesterase deficiency. J Clin Anesth. 2004;16:40-42.



Yen T. Nightingale BN, Burns JC, et al. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003;49:1297-308.



Hemadri M, Purva M, Trakova V. Unexpected prolonged neuromuscular block after mivacurium: a case report. Med Princ Pract. 2002;11:50-52.



Cerf C, Mesguiah M, Gabriel I, et al. Screening patients with prolonged neuromuscular blockade after succinylcholine and mivacurium. Anesth Analg. 2002;94:461-66.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Butyrylcholinesterase; BCHE. Entry Number; 177400: Last Edit Date; 3/17/2004.



Alexander DR. Pseudocholinesterase Deficiency. emedicine. Last Updated: January 25, 2002. 10pp.

www.emedicine.com/med/topic1935.htm



Pharmacogenetics. The Merck Manual. Sec. 22, Ch. 301, nd. 3pp.

www.merck.com/merckshared/mmanual/section22/chapter301/301a.jsp

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

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