What is Pseudocholinesterase Deficiency

Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency or plasma cholinesterase deficiency, is a rare genetic condition that affects the body's ability to break down certain medications and chemicals. This enzyme deficiency can lead to prolonged effects of certain drugs, particularly those used during anesthesia.

Pseudocholinesterase is an enzyme found in the blood and other tissues that helps metabolize certain substances, including succinylcholine and ester-type local anesthetics. Individuals with this deficiency have reduced or absent levels of pseudocholinesterase, resulting in slower breakdown and elimination of these substances from the body.

As a consequence, individuals with pseudocholinesterase deficiency may experience prolonged paralysis or respiratory depression after receiving medications that are normally rapidly metabolized. This condition is typically inherited in an autosomal recessive manner, meaning both parents must carry a copy of the defective gene for their child to be affected.

Diagnosis of pseudocholinesterase deficiency is usually confirmed through a blood test that measures the enzyme's activity. Genetic testing may also be performed to identify specific gene mutations associated with the condition.

Treatment for pseudocholinesterase deficiency primarily involves avoiding medications that are metabolized by this enzyme. Alternative drugs or anesthetics that are not dependent on pseudocholinesterase can be used instead to minimize the risk of adverse reactions.