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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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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Inheritance

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How is pseudocholinesterase deficiency inherited?

Pseudocholinesterase deficiency is inherited in an autosomal recessive manner.[1] Individuals who inherit one copy of the  mutated pseudocholinesterase gene have partial deficiency in enzyme activity, which results in a slightly prolonged duration of paralysis, longer than 5 minutes but shorter than 1 hour, following the administration of succinylcholine. A very small percentage of the population inherits two copies of the mutated gene. These individuals have symptoms that may last 1 hour or longer.[2]

Individuals who wish to learn more about their risk of inheriting or passing on the gene for pseudocholinesterase deficiency should seek the advice of a genetics professional. Visit the Services section to learn how you can find a genetics professional in your area.
Last updated: 3/3/2010

References
  1. Butyrylcholinesterase. Online Mendelian Inheritance in Man (OMIM). August 23, 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177400. Accessed 9/4/2008.
  2. Daniel R Alexander. Pseudocholinesterase Deficiency. eMedicine. July 17, 2006; http://www.emedicine.com/med/topic1935.htm. Accessed 9/4/2008.


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.