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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
More Names
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What causes of pseudocholinesterase deficiency?

There are inherited and acquired causes of the pseudocholinesterase deficiency.[1]

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.[1] 

The acquired causes of pseudocholinesterase deficiency include the following:  chronic infections, extensive burn injuries, liver disease, cancer, malnutrition, and taking certain medications.[1]

Last updated: 3/3/2010

  1. Daniel R Alexander. Pseudocholinesterase Deficiency. eMedicine. July 17, 2006; Accessed 9/4/2008.