Pseudocholinesterase Deficiency

Pseudocholinesterase Deficiency (also known as butyrylcholinesterase deficiency) is an inherited condition that affects how the body breaks down certain medications, particularly muscle relaxants used during surgery (succinylcholine and mivacurium). Affected individuals have a deficiency or abnormal form of the enzyme butyrylcholinesterase (BCHE), which normally rapidly metabolizes these drugs.

In people with normal enzyme function, succinylcholine causes brief muscle paralysis lasting a few minutes—useful for procedures like intubation. However, in individuals with pseudocholinesterase deficiency, the drug cannot be broken down normally, and paralysis may last for hours instead of minutes. This prolonged paralysis is called "succinylcholine apnea" or "prolonged neuromuscular blockade."

This condition causes no symptoms in daily life—it only becomes apparent when affected individuals are given certain anesthetic drugs. The prolonged paralysis includes the respiratory muscles, requiring extended mechanical ventilation until the drug slowly clears from the body. While not usually fatal if recognized and managed appropriately, it can be life-threatening if unexpected.

Pseudocholinesterase deficiency is caused by mutations in the BCHE gene and shows codominant inheritance—individuals with two abnormal copies have the most severe deficiency, while those with one normal and one abnormal copy have intermediate enzyme activity. The "atypical" variant (A variant) is most common. Knowing your genetic status can help anesthesiologists choose appropriate medications.

NutraHacker examines the following gene related to Pseudocholinesterase Deficiency:

• BCHE

For more information about your own genetic profile as related to Pseudocholinesterase Deficiency, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.