Pseudocholinesterase (butyrylcholinesterase) deficiency is an inherited or acquired condition in which the serum pseudocholinesterase levels are absent or lower than normal. The enzyme is produced by the liver; decreased levels of the enzyme in an individual cause increased sensitivity to anesthetic agents, like succinylcholine and mivacurium. Pseudocholinesterase deficiency is caused by butyrylcholinesterase (BCHE) gene mutation, a gene that provides instructions for making the pseudocholinesterase enzyme. Succinylcholine is a depolarizing muscle relaxant that provides a quicker onset and a brief duration of muscle relaxation during general anesthesia. In this article, we would like to discuss a case report of prolonged intubation and ventilation in a patient with pseudocholinesterase deficiency and the necessity of succinylcholine during intubation in comparison to possible alternatives (rocuronium).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603876PMC
http://dx.doi.org/10.7759/cureus.10721DOI Listing

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Rationale: Congenital butyrylcholinesterase deficiency (BCHED) is a rare autosomal recessive genetic disorder caused by a pathogenic mutation in the BCHE gene. Patients with BCHED may experience prolonged apnea or even death after the application of drugs such as succinylcholine. We aimed to identify the genetic basis of disease in a patient presenting with butyrylcholinesterase deficiency in order to confirm the diagnosis, expand BCHE gene mutation spectrum, and elucidate potential genotype-phenotype associations to inform management.

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Article Synopsis
  • - A 64-year-old man scheduled for a brain surgery experienced complications when he failed to regain spontaneous breathing after receiving succinylcholine, leading to the cancellation of the procedure after 108 minutes.
  • - Lab tests revealed he had pseudocholinesterase deficiency, a condition that affects how the body processes succinylcholine, which explained his prolonged paralysis.
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Background: Pseudocholinesterase (butyrylcholinesterase) deficiency is an acquired or inherited condition in which decreased plasma levels of the pseudocholinesterase enzyme lead to an inability to metabolize the neuromuscular blocking agents succinylcholine and mivacurium, prolonging their paralytic effects. This often results in delayed extubation and additional intensive care requirements in the postoperative period.

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Administration of succinylcholine to patients with a variant in the butyrylcholinesterase (BChE) gene increases the risk of anesthesia emergence prior to recovery from neuromuscular blockade (NMB). Application of quantitative neuromuscular monitoring (NMM) can identify residual NMB. We present two patients with abnormal BChE gene variants.

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