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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pseudocholinesterase deficiency


Other Names for this Disease
  • Succinylcholine Sensitivity
  • Apnea, Postanesthetic
  • Cholinesterase 2 Deficiency
  • Pseudocholinesterase E1
  • Suxamethonium Sensitivity
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Tests & Diagnosis

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How is pseudocholinesterase deficiency diagnosed?

Although the diagnosis is suspected after an episode of prolonged respiratory paralysis following administration of succinylcholine, the diagnosis of pseudocholinesterase deficiency is confirmed by a laboratory test.[1] Serum cholinesterase is a test for the enzymes acetylcholinesterase (also known as RBC cholinesterase) and pseudocholinesterase (also known as butyrylcholinesterase or plasma cholinesterase), which act to break down acetylcholine, a chemical critical in the transmission of nerve impulses.  A second test, the dibucaine inhibition test, may also be performed to help characterize the degree of a person's sensitivity.[2] This test may be performed prior to anesthesia with succinylcholine (a paralyzing agent that is eliminated by these enzymes) to exclude a genetic deficiency of these enzymes. This is often done in individuals who have a family history of a prolonged drug effect during anesthesia.[3]

Genetic testing is also available to look for mutations in the BCHE gene.  Visit the Genetic Testing Registry to find a list of laboratories that offer genetic testing.
Last updated: 4/12/2013

References
  1. Daniel R Alexander. Pseudocholinesterase Deficiency. eMedicine. July 17, 2006; http://www.emedicine.com/med/topic1935.htm. Accessed 9/4/2008.
  2. Lab Tests Online - Cholinesterase Tests. October 23, 2013; https://labtestsonline.org/understanding/analytes/cholinesterase/tab/test/. Accessed 3/4/2016.
  3. Daniel R Alexander. Serum cholinesterase. MedlinePlus. May 25, 2007; http://www.nlm.nih.gov/medlineplus/ency/article/003358.htm. Accessed 9/4/2008.


Other Names for this Disease
  • Succinylcholine Sensitivity
  • Apnea, Postanesthetic
  • Cholinesterase 2 Deficiency
  • Pseudocholinesterase E1
  • Suxamethonium 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.