Pseudocholinesterase deficiency happens when people don’t have enough of an enzyme called pseudocholinesterase. This enzyme is important for breaking down certain drugs used during surgery, like succinylcholine and mivacurium, which help relax the muscles.
If someone has pseudocholinesterase deficiency, these drugs don’t work well for them. This can lead to problems because the muscles that control breathing might stop working properly, making them unable to breathe (apnea). Usually, people don’t know they have this condition until they need surgery with anesthesia. There’s no specific treatment for this, but those with pseudocholinesterase deficiency can carry a medical ID to let doctors and nurses know about it. If they have surgery, they might need a breathing machine (ventilator) until the muscles work again after anesthesia.
Pseudocholinesterase deficiency is caused by pathogenic (disease-causing) variants in the BCHE gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Carriers generally do not have symptoms, but they may sometimes experience a short period of breathing paralysis following anesthesia.
Other names for this condition are butyrylcholinesterase deficiency, cholinesterase II deficiency, pseudocholinesterase E1 deficiency, succinylcholine sensitivity, and suxamethonium sensitivity.
Resources:
National Organization of Rare Disorders
Revised November 2023
