Butyrylcholinesterase deficiency: literature analysis 

Paulius Burkauskas1, Karolina Baltrušaitytė1, Kęstutis Rimaitis2

1Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania 

2Hospital of Lithuanian University of Health Sciences, Kaunas Clinics, Department of Anesthesiology, Lithuania


Butyrylcholinesterase (BChE ) deficiency is an acquired or autosomal recessive inherited disorder caused by a mutation in the BChE gene located on chromosome 3 of the E1 locus. However, decreased activity of this enzyme is affected not only by genetic factors but also by age, kidney or liver diseases, malnutrition, severe burns, cancer or pregnancy. Plasma cholinesterase, also known as butyrylcholinesterase or pseudocholinesterase, is responsible for the hydrolysis of muscle relaxants, succinylcholine and mivacurium. Due to the deficiency of BChE, higher succinylcholine enters the neuromuscular junction, resulting in prolonged neuromuscular blockade time, which prolongs the duration of postoperative apnea. Consequently, it can be concluded that BChE deficiency results in unexpected prolonged muscle paralysis after the use of muscle relaxants.

Aim: To select and analyze current literature data presenting causes, diagnostics and recommendations for the treatment of butyrylcholinesterase deficiency. Methods: the review of literature was conducted using the medical database, selecting publications investigating the burden of cholinesterase deficiency. Conclusions: After analysis of the literature main causes, diagnostics and treatment methods of cholinesterase deficiency are presented. 

Keywords: Plasma cholinesterase deficiency, butyrylcholinesterase deficiency, genetic variations.