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Butyrylcholinesterase (BChE), also known as pseudoesterase or plasma cholinesterase, is mainly a detoxification enzyme, responsible for hydrolysis of numerous xenobiotics, including drugs. More than 70 BChE mutations have been described so far in humans. Despite changed BChE activity, there is no obvious phenotype under physiological conditions, unless the individual is exposed to the BChE substrate, such as succinylcholine. The aim of this work was to assess plasma BChE in a patient who showed abnormal (prolonged) response to succinylcholine application during surgery as well as in other family members. BChE activity was assessed by Ellman's method using butyrylthiocholine as a substrate and by ELISA using B2 18-5 primary antibodies. All samples were tested for BChE mutations by targeted sequencing. Our results revealed 20% BChE activity in the patient with succinylcholine sensitivity. The patient carried the two most common BChE mutations (A- and K-variants) and one unreported mutation (G115C). Her son who carried A- and K-variants showed a 20% decrease in BChE activity. One of his daughters with normal BChE activity harbored the K-variant, whereas the other daughter with a 20% decrease carried an F-variant that she inherited from her mother. In conclusion, we detected the most common BChE mutations in the studied family and we also detected a novel BChE mutation that leads to an 80% decrease in BChE activity. [ABSTRACT FROM AUTHOR]