Gene BCHE
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Also known as
CHE1, CHE2, E1, BuChE, pseudocholinesteraseOverview
BCHE (Butyrylcholinesterase) encodes butyrylcholinesterase (pseudocholinesterase), a serum enzyme that hydrolyzes various choline esters including succinylcholine and mivacurium, muscle relaxants commonly used in anesthesia. The enzyme is produced primarily in the liver and plays a role in detoxifying certain drugs and chemicals.Genetic variants in BCHE can cause butyrylcholinesterase deficiency, which affects the metabolism of succinylcholine and related drugs. Individuals with reduced enzyme activity may experience prolonged paralysis and apnea after receiving these medications during surgery. The most clinically significant variant is the "atypical" (A) variant, with the K variant and silent variants also affecting enzyme activity.
Understanding your BCHE genetic status is critical for anesthesia safety. Individuals with BCHE deficiency should inform their anesthesiologists before any surgical procedure. Alternative muscle relaxants can be used, and prolonged paralysis can be managed with supportive care if the deficiency is known beforehand.