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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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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.  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.[2]
Last updated: 4/12/2013

  1. Daniel R Alexander. Pseudocholinesterase Deficiency. eMedicine. July 17, 2006; Accessed 9/4/2008.
  2. Daniel R Alexander. Serum cholinesterase. MedlinePlus. May 25, 2007; Accessed 9/4/2008.