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an autosomal dominant disorder manifested by exaggerated responses to drugs ordinarily hydrolyzed by serum pseudocholinesterase (for example, 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.
Farlex Partner Medical Dictionary © Farlex 2012
pseu·do·cho·lin·es·ter·ase de·fi·cien·cy(sūdō-kōlin-estĕr-ās dĕ-fishĕn-sē) [MIM*177400]
Disorder with exaggerated responses to drugs ordinarily hydrolyzed by serum pseudocholinesterase.
Medical Dictionary for the Dental Professions © Farlex 2012