SNP Shot: Genomic Insights

Pseudocholinesterase deficiency leads to heightened sensitivity to choline ester muscle relaxants, like succinylcholine and mivacurium, commonly used during general anesthesia. These drugs rapidly relax skeletal muscles, including those necessary for breathing, and are frequently used in short surgeries or emergency intubations. Typically, the body quickly metabolizes these drugs, allowing muscle function to return within minutes. However, individuals with pseudocholinesterase deficiency experience prolonged muscle paralysis and breathing difficulty, sometimes lasting for hours, requiring mechanical ventilation until the drugs are eliminated.

Individuals with this deficiency can also exhibit increased sensitivity to other medications, such as the local anesthetic procaine, and certain agricultural pesticides. The deficiency typically presents no symptoms until an adverse reaction to these substances occurs.

Inheritance:

The genetic form of pseudocholinesterase deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene within a cell must carry mutations for the condition to manifest. Parents who each carry one copy of the mutated gene are considered carriers. While generally asymptomatic themselves, they have the potential to transmit the gene mutation to their offspring. In some instances, carriers of BCHE gene mutations may clear choline ester drugs at a slower rate than normal, though faster than individuals with two copies of the mutated gene.