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Description
Pseudocholinesterase deficiency, also called butyrylcholinesterase deficiency, is a condition that is characterized by an increased sensitivity to certain substances, including the medications succinylcholine and mivacurium. These medications may be given during general anesthesia. General anesthesia is typically used during major surgeries and causes a brief period of unconsciousness. Succinylcholine and mivacurium relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing.
Succinylcholine and mivacurium are typically broken down (metabolized) by the body within a few minutes of being administered. However, people with pseudocholinesterase deficiency do not metabolize these medications as quickly, so they remain active longer than usual. As a result, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after succinylcholine and mivacurium are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the medications are cleared from the body.
People with pseudocholinesterase deficiency may also have an increased sensitivity to other substances, including cocaine and the local anesthetic procaine. Local anesthetics are used to numb a small area of the body. Affected individuals may also be more sensitive to specific agricultural pesticides.
Because affected individuals typically have no other signs or symptoms, pseudocholinesterase deficiency is usually not discovered until a person has an abnormal reaction to one of these substances.
Frequency
Pseudocholinesterase deficiency occurs in approximately 1 in 3,200 to 1 in 5,000 people. It is more common in males than in females. The condition is also more common in the Persian Jewish community, some people of Alaskan Native descent, and White people of European descent.
Causes
Variants (also called mutations) in the BCHE gene can cause pseudocholinesterase deficiency. This gene provides instructions for making an enzyme called pseudocholinesterase, also known as butyrylcholinesterase. This enzyme is produced by the liver and circulates in the blood. Pseudocholinesterase is involved in the metabolism of succinylcholine and mivacurium. This enzyme also helps break down other substances, including some local anesthetics and agricultural pesticides.
Some of the gene variants that are associated with pseudocholinesterase deficiency cause cells to produce a version of the enzyme that does not function properly. Other variants prevent the production of any pseudocholinesterase. A lack of functional pseudocholinesterase impairs the body's ability to metabolize certain substances, including the medications succinylcholine and mivacurium. This causes the effects of these substances to last longer than usual.
Some cases of pseudocholinesterase deficiency are not caused by variants in the BCHE gene and are not inherited. In these cases, the condition is acquired and the enzyme's activity is affected by nongenetic factors instead. These factors can include pregnancy; increased age; chronic infections; kidney, liver, or heart disease; malnutrition; major burns; cancer; and certain prescription medications.
Inheritance
When pseudocholinesterase deficiency is caused by variants in the BCHE gene, the condition is inherited in an autosomal recessive pattern
, which means both copies of the gene in each cell must have a variant to cause the disorder.
Approximately 1 in 500 people have a variant in only one copy of the BCHE gene. These individuals take longer than usual to clear certain substances from the body but typically not as long as those with a variant in both copies of the gene.
Acquired cases of pseudocholinesterase deficiency are not inherited.
Other Names for This Condition
- Acholinesterasemia
- Butyrylcholinesterase deficiency
- Deficiency of butyrylcholine esterase
- Hereditary pseudocholinesterase deficiency
Additional Information & Resources
Genetic Testing Information
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Clinical Trials
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
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- Benner A, Lewallen NF, Sadiq NM. Biochemistry, Pseudocholinesterase. 2022 Sep 24. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK545284/ Citation on PubMed
- Garcia DF, Oliveira TG, Molfetta GA, Garcia LV, Ferreira CA, Marques AA, Silva WA Jr. Biochemical and genetic analysis of butyrylcholinesterase (BChE) in a family, due to prolonged neuromuscular blockade after the use of succinylcholine. Genet Mol Biol. 2011 Jan;34(1):40-4. doi: 10.1590/S1415-47572011000100008. Epub 2011 Mar 1. Citation on PubMed or Free article on PubMed Central
- Gatke MR, Bundgaard JR, Viby-Mogensen J. Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. Pharmacogenet Genomics. 2007 Nov;17(11):995-9. doi: 10.1097/FPC.0b013e3282f06646. Citation on PubMed
- Leadingham CL. A case of pseudocholinesterase deficiency in the PACU. J Perianesth Nurs. 2007 Aug;22(4):265-71; quiz 272-4. doi: 10.1016/j.jopan.2007.05.005. Citation on PubMed
- Levano S, Ginz H, Siegemund M, Filipovic M, Voronkov E, Urwyler A, Girard T. Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. Anesthesiology. 2005 Mar;102(3):531-5. doi: 10.1097/00000542-200503000-00009. Citation on PubMed
- Maiorana A, Roach RB Jr. Heterozygous pseudocholinesterase deficiency: a case report and review of the literature. J Oral Maxillofac Surg. 2003 Jul;61(7):845-7. doi: 10.1016/s0278-2391(03)00163-0. No abstract available. Citation on PubMed
- Robles A, Michael M, McCallum R. Pseudocholinesterase Deficiency: What the Proceduralist Needs to Know. Am J Med Sci. 2019 Mar;357(3):263-267. doi: 10.1016/j.amjms.2018.11.002. Epub 2018 Nov 10. Citation on PubMed
- Soliday FK, Conley YP, Henker R. Pseudocholinesterase deficiency: a comprehensive review of genetic, acquired, and drug influences. AANA J. 2010 Aug;78(4):313-20. Citation on PubMed
- Trujillo R, West WP. Pseudocholinesterase Deficiency. 2023 Jul 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK541032/ Citation on PubMed
- Yen T, Nightingale BN, Burns JC, Sullivan DR, Stewart PM. Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population. Clin Chem. 2003 Aug;49(8):1297-308. doi: 10.1373/49.8.1297. Citation on PubMed
- Zelinski T, Coghlan G, Mauthe J, Triggs-Raine B. Molecular basis of succinylcholine sensitivity in a prairie Hutterite kindred and genetic characterization of the region containing the BCHE gene. Mol Genet Metab. 2007 Feb;90(2):210-6. doi: 10.1016/j.ymgme.2006.10.009. Epub 2006 Dec 12. Citation on PubMed
- Zencirci B. Pseudocholinesterase enzyme deficiency: a case series and review of the literature. Cases J. 2009 Dec 4;2:9148. doi: 10.1186/1757-1626-2-9148. Citation on PubMed or Free article on PubMed Central
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