Pseudocholinesterase deficiency

Deficiency of butyrylcholine esterase


Type of disease: Rare conditions

Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia, called choline esters. These drugs relax the muscles used for movement, including the muscles needed for breathing. They are normally broken down by the body within a few minutes of being given, at which time the muscles can move again. However, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after, therefore needing mechanical ventilation until the drugs are cleared from the body. Affected individuals may also have increased sensitivity to certain other drugs and to specific agricultural pesticides. Pseudocholinesterase deficiency can be inherited in an autosomal recessive manner and caused by mutations in the BCHE gene, or it can have non-genetic causes in which case it is called acquired pseudocholinesterase deficiency. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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