Pseudocholinesterase deficiency

What causes pseudocholinesterase deficiency?

There are both genetic (inherited) and acquired causes of pseudocholinesterase deficiency.

Inherited pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, known as butyrylcholinesterase. This enzyme is made by the liver and circulates in the blood. It is involved in breaking down (metabolizing) choline ester drugs. Mutations that cause pseudocholinesterase deficiency either impair the function or production of butyrylcholinesterase. This impairs the body's ability to effectively metabolize choline ester drugs, leading to the abnormally prolonged effects of these drugs.

Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to the next generation. This form of the condition is caused by impairment of the enzyme's function due to factors such as kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.

Last updated on 05-01-20

How is pseudocholinesterase deficiency diagnosed?

Pseudocholinesterase deficiency often is first suspected after an episode of prolonged respiratory paralysis following general anesthesia. The diagnosis is confirmed by a blood test that measures pseudocholinesterase enzyme activity.

People with pseudocholinesterase deficiency should warn their relatives to be tested before surgery since the condition is often inherited. People who have relatives who have died for unknown reasons during surgery should be screened for the deficiency prior to undergoing surgery.

Last updated on 05-01-20

Is pseudocholinesterase deficiency inherited?

Pseudocholinesterase deficiency can be inherited or acquired.

The inherited form is autosomal recessive. This means that to be affected, a person must have a mutation in both copies of the responsible gene ( BCHE ) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier

In some cases, carriers of BCHE gene mutations take longer than usual to clear choline ester drugs from the body - but not as long as those with two mutated copies of the gene.

Acquired pseudocholinesterase deficiency is not inherited, occurring due to illness, injury, or certain medications.

Last updated on 05-01-20

How might pseudocholinesterase deficiency be treated?

People with known pseudocholinesterase deficiency should avoid exposure to sources of choline esters. Treatment of prolonged respiratory paralysis following surgery often involves mechanical ventilatory support until the paralysis resolves on its own. In most cases, recovery happens without the need for medical assistance.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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