Other Names for this Disease
- Apnea, Postanesthetic
- Butyrylcholinesterase deficiency
- Cholinesterase 2 Deficiency
- Pseudocholinesterase E1
- Succinylcholine Sensitivity
What causes of pseudocholinesterase deficiency?
How is pseudocholinesterase deficiency inherited?
How is pseudocholinesterase deficiency diagnosed?
What treatment is available for pseudocholinesterase deficiency?
The inherited form of the condition is caused by mutations (changes) in the genes that produce pseudocholinesterase. The mutations cause the gene to produce inadequate amounts of pseudocholinesterase or to produce abnormal forms of the enzyme. Individuals that have only one 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. Less than 0.1% of the general population carries two mutated copies of the pseudocholinesterase gene that will produce clinically significant effects from succinylcholine lasting longer than 1 hour.
The acquired causes of pseudocholinesterase deficiency include the following: chronic infections, extensive burn injuries, liver disease, cancer, malnutrition, and taking certain medications.
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.
- Pseudocholinesterase deficiency. Genetics Home Reference. April 2012; http://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency. Accessed 10/16/2013.
- Daniel R Alexander. Pseudocholinesterase Deficiency. eMedicine. July 17, 2006; http://www.emedicine.com/med/topic1935.htm. Accessed 9/4/2008.
- 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.
- Daniel R Alexander. Serum cholinesterase. MedlinePlus. May 25, 2007; http://www.nlm.nih.gov/medlineplus/ency/article/003358.htm. Accessed 9/4/2008.