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pseudocholinesterase deficiency


Definition: an autosomal dominant disorder manifested by exaggerated responses to drugs ordinarily hydrolyzed by serum pseudocholinesterase (succinylcholine); believed to entail production of a variant enzyme that is less active than the normal enzyme in hydrolyzing appropriate substrates, but also abnormally resistant to the effects of anticholinesterases, caused by mutation in the pseudocholinesterase E1 gene (CHE1) on 3q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.