Materiały źródłowe

• #1 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #2 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, and cocaine. Of these, its most clinically important substrate is the depolarizing neuromuscular blocking agent, succinylcholine, which the pseudocholinesterase enzyme hydrolyzes to succinylmonocholine and then to succinic acid. […] Pseudocholinesterase deficiency can result in higher levels of intact succinylcholine molecules reaching receptors in the neuromuscular junction, causing the duration of paralytic effect to continue for as long as 8 hours. […] This condition is recognized clinically when paralysis of respiratory and other skeletal muscles fails to spontaneously resolve after succinylcholine is administered as an adjunctive paralytic agent during anesthesia procedures.

• #3 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  Pseudocholinesterase (PChE) metabolizes succinylcholine, mivacurium, and ester local anesthetics. Different molecular forms result in varying levels of enzyme activity. […] PChE deficiency causes a reduced ability to metabolize those drugs. […] PChE deficiency is inherited in an autosomal recessive manner. […] Deficiency of PChE can be inherited (as an autosomal recessive trait), acquired, or iatrogenic. […] Acquired deficiency can be due to advanced age, pregnancy, kidney disease, malnutrition, liver disease, cancer, collagen vascular disease, burns, and hypothyroidism. […] Iatrogenic causes are usually pharmaceutical agents that interfere with enzyme activity. […] The potential for PChE enzyme deficiency makes it vital to check for recovery from succinylcholine before administering any other paralytic and waking up a patient.

• #4 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. […] The onset of pseudocholinesterase deficiency may occur through inheritable (genetic) or acquired pathways. […] The genetic inheritance of pseudocholinesterase deficiency occurs through an autosomal recessive pattern, with frequencies of approximately 1 in 50 to 1 in 3000 individuals for heterozygotes and homozygotes, respectively. […] Acquired conditions that decrease the activity of the BuChE enzyme include malnutrition, advanced age, malignancy, liver or kidney disease, pregnancy, burns, and organophosphate poisoning. […] The coding gene for BuChE coincides with multiple polymorphisms, resulting in wide variability in the level of activity of each variant, including silent variants with little to no enzymatic function. […] Depending on the type and location of the gene mutation, alterations in enzyme structure/function or cessation of enzyme synthesis may occur.

• #5 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. Pseudocholinesterase is a plasma enzyme that is responsible for the breakdown of succinylcholine and mivacurium, which are commonly used paralytic agents. […] This disorder is marked by a decrease or absence of the pseudocholinesterase enzyme. This enzyme is a product of liver synthesis and aids in the degradation and hydrolysis of anesthetic esters including muscle relaxants such as succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. Heterozygotes inherit one copy of the defective gene while homozygotes inherit both defective genes.

• #6 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #7 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. Patients may therefore present as heterozygotes with only one gene coding for the abnormal enzyme or as a homozygote with both genes coding for the defective pseudocholinesterase enzyme. Heterozygotes will present with an approximate 30 percent increase in the duration of the neuromuscular blockade after standard succinylcholine dosing. Homozygotes, however, can present with neuromuscular blockade for a clinically significant greater duration (2 to 3 hrs).

• #8 Pseudocholinesterase Deficiency – Norton & Elaine Sarnoff Center for Jewish Genetics

  https://www.jewishgenetics.org/genetic-disorders/search-genetic-disorders/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency is caused by pathogenic (disease-causing) variants in the BCHE gene and exhibits autosomal recessive inheritance. […] This means that both parents must be carriers to have a 25% chance to have a child with the condition. […] The risk of being a carrier is based on a person’s ancestry or ethnic background.

• #9 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body’s ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.

• #10 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. […] The onset of pseudocholinesterase deficiency may occur through inheritable (genetic) or acquired pathways. […] The genetic inheritance of pseudocholinesterase deficiency occurs through an autosomal recessive pattern, with frequencies of approximately 1 in 50 to 1 in 3000 individuals for heterozygotes and homozygotes, respectively. […] Acquired conditions that decrease the activity of the BuChE enzyme include malnutrition, advanced age, malignancy, liver or kidney disease, pregnancy, burns, and organophosphate poisoning. […] The coding gene for BuChE coincides with multiple polymorphisms, resulting in wide variability in the level of activity of each variant, including silent variants with little to no enzymatic function. […] Depending on the type and location of the gene mutation, alterations in enzyme structure/function or cessation of enzyme synthesis may occur.

• #11 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. […] The onset of pseudocholinesterase deficiency may occur through inheritable (genetic) or acquired pathways. […] The genetic inheritance of pseudocholinesterase deficiency occurs through an autosomal recessive pattern, with frequencies of approximately 1 in 50 to 1 in 3000 individuals for heterozygotes and homozygotes, respectively. […] Acquired conditions that decrease the activity of the BuChE enzyme include malnutrition, advanced age, malignancy, liver or kidney disease, pregnancy, burns, and organophosphate poisoning. […] The coding gene for BuChE coincides with multiple polymorphisms, resulting in wide variability in the level of activity of each variant, including silent variants with little to no enzymatic function. […] Depending on the type and location of the gene mutation, alterations in enzyme structure/function or cessation of enzyme synthesis may occur.

• #12 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. […] The onset of pseudocholinesterase deficiency may occur through inheritable (genetic) or acquired pathways. […] The genetic inheritance of pseudocholinesterase deficiency occurs through an autosomal recessive pattern, with frequencies of approximately 1 in 50 to 1 in 3000 individuals for heterozygotes and homozygotes, respectively. […] Acquired conditions that decrease the activity of the BuChE enzyme include malnutrition, advanced age, malignancy, liver or kidney disease, pregnancy, burns, and organophosphate poisoning. […] The coding gene for BuChE coincides with multiple polymorphisms, resulting in wide variability in the level of activity of each variant, including silent variants with little to no enzymatic function. […] Depending on the type and location of the gene mutation, alterations in enzyme structure/function or cessation of enzyme synthesis may occur.

• #13 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. Pseudocholinesterase is a plasma enzyme that is responsible for the breakdown of succinylcholine and mivacurium, which are commonly used paralytic agents. […] This disorder is marked by a decrease or absence of the pseudocholinesterase enzyme. This enzyme is a product of liver synthesis and aids in the degradation and hydrolysis of anesthetic esters including muscle relaxants such as succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. Heterozygotes inherit one copy of the defective gene while homozygotes inherit both defective genes.

• #14

  https://omim.org/entry/617936

  A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. […] BCHE deficiency is mainly due to mutations in the BCHE gene (summary by Delacour et al., 2014). […] Individuals who are homozygous for the A variant fail to hydrolyze succinylcholine and mivacurium in the circulation, thus allowing a huge overdose to paralyze the breathing muscles. The genetic variant most frequently found in cases of prolonged apnea is the A variant, which reduces the binding affinity for succinylcholine 100-fold (Lockridge, 2015). […] Individuals homozygous for specific silent variants or compound heterozygous for the atypical allele and a fluoride (e.g., 177400.0003) or a silent allele have prolonged apnea (Lockridge, 2015). […] The allele produced a 30% reduction of serum butyrylcholinesterase activity.

• #15 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Dibucaine number indicates zygosity and genetic origin of disease. Dibucaine is a local anesthetic agent that inhibits the enzymatic activity of pseudocholinesterase; the lower the quantity of dibucaine, the lower the absolute inhibition of dibucaine and therefore the lower the dibucaine number. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. This involves properly educating patients on this new diagnosis. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #16 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  The plasma cholinesterase activity level is genetically determined by four alleles identified as silent (s), usual allele (u), dibucaine (d), or fluoride (f); also, this allele can be absent (a). […] When succinylcholine is used for anesthesia, its high plasma concentration immediately after intravenous injection decreases rapidly in normal individuals because of the rapid action of plasma PCE. In case of an atypical PCE or complete absence of PCE, the effect of the injected succinylcholine can last for up to 10 hours.

• #17

  https://omim.org/entry/617936

  A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. […] BCHE deficiency is mainly due to mutations in the BCHE gene (summary by Delacour et al., 2014). […] Individuals who are homozygous for the A variant fail to hydrolyze succinylcholine and mivacurium in the circulation, thus allowing a huge overdose to paralyze the breathing muscles. The genetic variant most frequently found in cases of prolonged apnea is the A variant, which reduces the binding affinity for succinylcholine 100-fold (Lockridge, 2015). […] Individuals homozygous for specific silent variants or compound heterozygous for the atypical allele and a fluoride (e.g., 177400.0003) or a silent allele have prolonged apnea (Lockridge, 2015). […] The allele produced a 30% reduction of serum butyrylcholinesterase activity.

• #18 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency can also have nongenetic causes. In these cases, the condition is called acquired pseudocholinesterase deficiency; it is not inherited and cannot be passed to the next generation. Activity of the pseudocholinesterase enzyme can be impaired by kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.

• #19 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  You can develop pseudocholinesterase deficiency as a result of conditions that cause you to make less of the pseudocholinesterase enzyme. These conditions include chronic infections, kidney or liver disease, malnutrition, severe burns, cancer, or pregnancy. Certain medications also can reduce production of the enzyme. Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to your children.

• #20 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #21 Biochemistry, Pseudocholinesterase – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545284/

  Pseudocholinesterase deficiency causes increased sensitivity to choline ester muscle relaxant medications: succinylcholine and mivacurium. […] The onset of pseudocholinesterase deficiency may occur through inheritable (genetic) or acquired pathways. […] The genetic inheritance of pseudocholinesterase deficiency occurs through an autosomal recessive pattern, with frequencies of approximately 1 in 50 to 1 in 3000 individuals for heterozygotes and homozygotes, respectively. […] Acquired conditions that decrease the activity of the BuChE enzyme include malnutrition, advanced age, malignancy, liver or kidney disease, pregnancy, burns, and organophosphate poisoning. […] The coding gene for BuChE coincides with multiple polymorphisms, resulting in wide variability in the level of activity of each variant, including silent variants with little to no enzymatic function. […] Depending on the type and location of the gene mutation, alterations in enzyme structure/function or cessation of enzyme synthesis may occur.

• #22 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  Pseudocholinesterase (PChE) metabolizes succinylcholine, mivacurium, and ester local anesthetics. Different molecular forms result in varying levels of enzyme activity. […] PChE deficiency causes a reduced ability to metabolize those drugs. […] PChE deficiency is inherited in an autosomal recessive manner. […] Deficiency of PChE can be inherited (as an autosomal recessive trait), acquired, or iatrogenic. […] Acquired deficiency can be due to advanced age, pregnancy, kidney disease, malnutrition, liver disease, cancer, collagen vascular disease, burns, and hypothyroidism. […] Iatrogenic causes are usually pharmaceutical agents that interfere with enzyme activity. […] The potential for PChE enzyme deficiency makes it vital to check for recovery from succinylcholine before administering any other paralytic and waking up a patient.

• #23 Pseudocholinesterase enzyme deficiency: a case series and review of the literature | Cases Journal | Full Text

  https://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9148

  Other acquired causes of decreased activity include renal and liver disease, malignancy, burns, chronic debilitation/malnutrition, myocardial infarction/cardiac failure, collagen diseases, myxedema, and organophosphate poisoning. […] The presence of a prolonged apnea and low enzyme activity in this operation, although the case had not had any problems during the previous operations led us to think that this was a malnutrition-associated PChE deficiency. […] The usual clinical antidepressants (fluoxetine, sertraline, and amitriptyline) are inhibitors of the cholinesterases on human serum and erythrocyte membrane. […] We believe this is the first case presentation in that sense. […] We may find out that prolonged blocks can be encountered as a result of PChE enzyme defect when mivacurium is used. This situation can either be from congenital as in one of our patients or due to various reasons (pregnancy, malnutrition and sertraline use) as in the other three patients.

• #24 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. […] This disorder is marked by a decrease or absence of the pseudocholinesterase enzyme. This enzyme is a product of liver synthesis and aids in the degradation and hydrolysis of anesthetic esters including muscle relaxants such as succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. […] Acquired causes of this deficiency include, but are not limited to: liver failure, renal failure, massive burns, malignancy, hypothermia, hypothyroidism, extremes of age, hypoalbuminemia/malnutrition, pregnancy, and HELLP syndrome.

• #25

  https://journals.lww.com/jica/fulltext/2022/01020/revisiting_pseudocholinesterase_deficiency__the.1.aspx

  Acquired PChE deficiency can occur in malnutrition, pregnancy, postpartum period, liver disease, kidney disease, myocardial infarction, congestive heart failure, malignancy, chronic infections, hemodialysis, and burns. […] PChE deficiency is not detected until the patient has prolonged neuromuscular blockade following exposure to succinylcholine or mivacurium. […] Diagnosis of PChE deficiency is by exclusion. […] Confirmation for PChE deficiency can be performed by the following techniques: […] Patients diagnosed with PChE deficiency are expected to make a full recovery after administration of succinylcholine or mivacurium provided adequate mechanical ventilation and vigilant monitoring is provided to ensure the spontaneous return of motor function. […] Pharmacological blockade reversal with neostigmine and physostigmine is not recommended as these drugs can also inhibit the activity of PChE enzyme leading to further prolongation of the paralysis.

• #26 Pseudocholinesterase Deficiency – OpenAnesthesia

  https://www.openanesthesia.org/keywords/pseudocholinesterase-deficiency/

  Pseudocholinesterase (PChE) metabolizes succinylcholine, mivacurium, and ester local anesthetics. Different molecular forms result in varying levels of enzyme activity. […] PChE deficiency causes a reduced ability to metabolize those drugs. […] PChE deficiency is inherited in an autosomal recessive manner. […] Deficiency of PChE can be inherited (as an autosomal recessive trait), acquired, or iatrogenic. […] Acquired deficiency can be due to advanced age, pregnancy, kidney disease, malnutrition, liver disease, cancer, collagen vascular disease, burns, and hypothyroidism. […] Iatrogenic causes are usually pharmaceutical agents that interfere with enzyme activity. […] The potential for PChE enzyme deficiency makes it vital to check for recovery from succinylcholine before administering any other paralytic and waking up a patient.

• #27 Pseudocholinesterase enzyme deficiency: a case series and review of the literature | Cases Journal | Full Text

  https://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9148

  Other acquired causes of decreased activity include renal and liver disease, malignancy, burns, chronic debilitation/malnutrition, myocardial infarction/cardiac failure, collagen diseases, myxedema, and organophosphate poisoning. […] The presence of a prolonged apnea and low enzyme activity in this operation, although the case had not had any problems during the previous operations led us to think that this was a malnutrition-associated PChE deficiency. […] The usual clinical antidepressants (fluoxetine, sertraline, and amitriptyline) are inhibitors of the cholinesterases on human serum and erythrocyte membrane. […] We believe this is the first case presentation in that sense. […] We may find out that prolonged blocks can be encountered as a result of PChE enzyme defect when mivacurium is used. This situation can either be from congenital as in one of our patients or due to various reasons (pregnancy, malnutrition and sertraline use) as in the other three patients.

• #28 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. Being malnourished, being pregnant or having just given birth, having burns, liver or kidney disease, being on hemodialysis, suffering from a heart attack or heart failure, living with cancer, chronic infections, and taking medicines like steroids and cytotoxic agents can lead to less production of the pseudocholinesterase enzyme. Other medications and certain chemicals, like certain insecticides, drugs used to treat depression (known as MAO inhibitors), and drugs that block a certain enzyme (called anticholinesterase drugs) can also inhibit the functionality of the pseudocholinesterase enzyme. […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium.

• #29 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. Being malnourished, being pregnant or having just given birth, having burns, liver or kidney disease, being on hemodialysis, suffering from a heart attack or heart failure, living with cancer, chronic infections, and taking medicines like steroids and cytotoxic agents can lead to less production of the pseudocholinesterase enzyme. Other medications and certain chemicals, like certain insecticides, drugs used to treat depression (known as MAO inhibitors), and drugs that block a certain enzyme (called anticholinesterase drugs) can also inhibit the functionality of the pseudocholinesterase enzyme. […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium.

• #30 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. Being malnourished, being pregnant or having just given birth, having burns, liver or kidney disease, being on hemodialysis, suffering from a heart attack or heart failure, living with cancer, chronic infections, and taking medicines like steroids and cytotoxic agents can lead to less production of the pseudocholinesterase enzyme. Other medications and certain chemicals, like certain insecticides, drugs used to treat depression (known as MAO inhibitors), and drugs that block a certain enzyme (called anticholinesterase drugs) can also inhibit the functionality of the pseudocholinesterase enzyme. […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium.

• #31 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  On the other hand, acquired pseudocholinesterase deficiency develops under certain health conditions or due to certain drugs. Being malnourished, being pregnant or having just given birth, having burns, liver or kidney disease, being on hemodialysis, suffering from a heart attack or heart failure, living with cancer, chronic infections, and taking medicines like steroids and cytotoxic agents can lead to less production of the pseudocholinesterase enzyme. Other medications and certain chemicals, like certain insecticides, drugs used to treat depression (known as MAO inhibitors), and drugs that block a certain enzyme (called anticholinesterase drugs) can also inhibit the functionality of the pseudocholinesterase enzyme. […] Pseudocholinesterase deficiency is usually identified when a patient experiences long-lasting muscle weakness after being administered standard doses of certain medications like succinylcholine or mivacurium.

• #32 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. Pseudocholinesterase is a plasma enzyme that is responsible for the breakdown of succinylcholine and mivacurium, which are commonly used paralytic agents. […] This disorder is marked by a decrease or absence of the pseudocholinesterase enzyme. This enzyme is a product of liver synthesis and aids in the degradation and hydrolysis of anesthetic esters including muscle relaxants such as succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. Heterozygotes inherit one copy of the defective gene while homozygotes inherit both defective genes.

• #33 Psuedocholinesterase Deficiency | Calgary Guide

  https://calgaryguide.ucalgary.ca/pseudocholinesterase-deficiency-pathophysiology-and-anesthetic-considerations/psuedocholinesterase-deficiency/

  Pseudocholinesterase Deficiency: Pathophysiology and Anesthetic Considerations […] Pseudocholinesterase has many synonymous names including butyrylcholinesterase, BChE, BuChE, plasma esterase, plasma cholinesterase, and serum cholinesterase […] Acquired Liver disease livers ability to synthesize proteins […] Hereditary BChE (Butyrylcholinesterase) gene mutation production or production of non-functional pseudocholinesterase by the liver synthesis of pseudocholinesterase by the liver […] Pseudocholinesterase Deficiency: reduced levels of functional pseudocholinesterase in plasma and tissues […] Impaired ability to hydrolyze ester linkages of substrates like neuromuscular blocking agents (e.g. succinylcholine, mivacurium, diamorphine, acetylsalicylic acid, methylprednisolone, cocaine, heroin)

• #34 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine. Individuals with a normally functioning version of the enzyme can rapidly and extensively metabolize succinylcholine and mivacurium, leading to their short duration of action (less than 10 minutes for succinylcholine). With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum.

• #35 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #36 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine. Individuals with a normally functioning version of the enzyme can rapidly and extensively metabolize succinylcholine and mivacurium, leading to their short duration of action (less than 10 minutes for succinylcholine). With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum.

• #37 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #38 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. Patients may therefore present as heterozygotes with only one gene coding for the abnormal enzyme or as a homozygote with both genes coding for the defective pseudocholinesterase enzyme. Heterozygotes will present with an approximate 30 percent increase in the duration of the neuromuscular blockade after standard succinylcholine dosing. Homozygotes, however, can present with neuromuscular blockade for a clinically significant greater duration (2 to 3 hrs).

• #39 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency is a rare condition that can be inherited or acquired. Its a defect in an enzyme produced by the liver called pseudocholinesterase. In the practice of anesthesia (administering drugs to prevent pain during surgeries), two muscle relaxants, succinylcholine and mivacurium, are often used to aid in the process of inserting a tube into the windpipe and making the surgical area more accessible. […] In people with abnormal forms of pseudocholinesterase, the body is not as efficient at breaking down these two drugs. This can result in extended periods of muscle paralysis from standard doses of succinylcholine and mivacurium. […] In the case of inherited pseudocholinesterase deficiency, this happens due to changes in a specific gene related to an enzyme found in our body called butyrylcholinesterase. This gene is located on a certain part of our third chromosome. Some patients may inherit only one of these changed genes, while others get two. Those with only one changed gene experience longer-lasting effects of nerve blockers (drugs that prevent nerves from sending signals), but it only increases by about 30 percent. However, those with a changed gene from both parents, can experience the effects of nerve blockers for two to three hours.

• #40

  https://omim.org/entry/617936

  A number sign (#) is used with this entry because butyrylcholinesterase deficiency (BCHED) can be caused by homozygous or compound heterozygous mutation in the BCHE gene (177400) on chromosome 3q26. Severe cholinesterase deficiency results in postanesthetic apnea. […] BCHE deficiency is mainly due to mutations in the BCHE gene (summary by Delacour et al., 2014). […] Individuals who are homozygous for the A variant fail to hydrolyze succinylcholine and mivacurium in the circulation, thus allowing a huge overdose to paralyze the breathing muscles. The genetic variant most frequently found in cases of prolonged apnea is the A variant, which reduces the binding affinity for succinylcholine 100-fold (Lockridge, 2015). […] Individuals homozygous for specific silent variants or compound heterozygous for the atypical allele and a fluoride (e.g., 177400.0003) or a silent allele have prolonged apnea (Lockridge, 2015). […] The allele produced a 30% reduction of serum butyrylcholinesterase activity.

• #41 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, and cocaine. Of these, its most clinically important substrate is the depolarizing neuromuscular blocking agent, succinylcholine, which the pseudocholinesterase enzyme hydrolyzes to succinylmonocholine and then to succinic acid. […] Pseudocholinesterase deficiency can result in higher levels of intact succinylcholine molecules reaching receptors in the neuromuscular junction, causing the duration of paralytic effect to continue for as long as 8 hours. […] This condition is recognized clinically when paralysis of respiratory and other skeletal muscles fails to spontaneously resolve after succinylcholine is administered as an adjunctive paralytic agent during anesthesia procedures.

• #42 AnesthesiologyQR: A Quick Reference for medical students learning anesthesiology at University of Toronto

  http://pie.med.utoronto.ca/anesthesiaqr/AnesthesiaQR_content/AnesthesiaQR_Pharmacology_Complications.html

  Pseudocholinesterase deficiency (or succinylcholine apnea) is a condition which can lead to prolonged muscular paralysis following administration of succinylcholine. […] Some patients have a qualitative decrease in pseudocholinesterase; enzyme levels might be normal but enzyme activity is decreased. […] In these patients, following administration of succinylcholine, muscle paralysis is prolonged. […] These patients have abnormal genes for pseudocholinesterase. […] Depending on whether the patient is heterozygous or homozygous for these abnormal alleles, the block can be prolonged from 20-30 minutes up to 4-8 hours, respectively. […] The treatment is continuous mechanical ventilation and sedation until muscle paralysis self-revolves. […] Afterwards, these patients can receive genotyping to confirm the diagnosis.

• #43 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body’s ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.

• #44 Pseudocholinesterase Deficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK541032/

  Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, refers to a rare acquired or inherited defect in the pseudocholinesterase enzyme produced by the liver. […] The inherited form of the enzyme transfers in an autosomal recessive manner secondary to mutations in the butyrylcholinesterase gene, located on chromosome 3, 3q26.1-26.20. […] With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] Duration of neuromuscular blockade is dependant upon whether the patient is homozygous or heterozygous for the defective enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum. […] Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine.

• #45 Pseudocholinesterase Deficiency | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/27928

  Pseudocholinesterase is a plasma enzyme produced in the liver that is responsible for the metabolism of the common anesthesia drugs, succinylcholine, and mivacurium, as well as ester local anesthetics, including cocaine. Individuals with a normally functioning version of the enzyme can rapidly and extensively metabolize succinylcholine and mivacurium, leading to their short duration of action (less than 10 minutes for succinylcholine). With an inherited deficiency, the defective form of the enzyme is unable to metabolize succinylcholine and mivacurium to the same degree, leading to prolonged neuromuscular paralysis for those who inherited atypical pseudocholinesterase enzyme. […] With an acquired deficiency, there is a decreased ability to degrade the substrate drugs solely due to decreased concentration of the enzyme in the serum.

• #46 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  You can develop pseudocholinesterase deficiency as a result of conditions that cause you to make less of the pseudocholinesterase enzyme. These conditions include chronic infections, kidney or liver disease, malnutrition, severe burns, cancer, or pregnancy. Certain medications also can reduce production of the enzyme. Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to your children.

• #47 Psuedocholinesterase Deficiency | Calgary Guide

  https://calgaryguide.ucalgary.ca/pseudocholinesterase-deficiency-pathophysiology-and-anesthetic-considerations/psuedocholinesterase-deficiency/

  Pseudocholinesterase Deficiency: Pathophysiology and Anesthetic Considerations […] Pseudocholinesterase has many synonymous names including butyrylcholinesterase, BChE, BuChE, plasma esterase, plasma cholinesterase, and serum cholinesterase […] Acquired Liver disease livers ability to synthesize proteins […] Hereditary BChE (Butyrylcholinesterase) gene mutation production or production of non-functional pseudocholinesterase by the liver synthesis of pseudocholinesterase by the liver […] Pseudocholinesterase Deficiency: reduced levels of functional pseudocholinesterase in plasma and tissues […] Impaired ability to hydrolyze ester linkages of substrates like neuromuscular blocking agents (e.g. succinylcholine, mivacurium, diamorphine, acetylsalicylic acid, methylprednisolone, cocaine, heroin)

• #48 Pseudocholinesterase enzyme deficiency: a case series and review of the literature | Cases Journal | Full Text

  https://casesjournal.biomedcentral.com/articles/10.1186/1757-1626-2-9148

  Other acquired causes of decreased activity include renal and liver disease, malignancy, burns, chronic debilitation/malnutrition, myocardial infarction/cardiac failure, collagen diseases, myxedema, and organophosphate poisoning. […] The presence of a prolonged apnea and low enzyme activity in this operation, although the case had not had any problems during the previous operations led us to think that this was a malnutrition-associated PChE deficiency. […] The usual clinical antidepressants (fluoxetine, sertraline, and amitriptyline) are inhibitors of the cholinesterases on human serum and erythrocyte membrane. […] We believe this is the first case presentation in that sense. […] We may find out that prolonged blocks can be encountered as a result of PChE enzyme defect when mivacurium is used. This situation can either be from congenital as in one of our patients or due to various reasons (pregnancy, malnutrition and sertraline use) as in the other three patients.

• #49 Psuedocholinesterase Deficiency | Calgary Guide

  https://calgaryguide.ucalgary.ca/pseudocholinesterase-deficiency-pathophysiology-and-anesthetic-considerations/psuedocholinesterase-deficiency/

  Prolonged binding of neuromuscular blocking agent to nicotinic cholinergic receptors in neuromuscular junctions patients susceptibility to side effects from drugs with ester linkages […] Acetylcholine cannot act on receptor = skeletal muscle cant depolarize […] Skeletal muscle paralysis […] Since respiratory muscles are affected Apnea requiring sedation and respiratory assistance for up to several hours.

• #50 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, and cocaine. Of these, its most clinically important substrate is the depolarizing neuromuscular blocking agent, succinylcholine, which the pseudocholinesterase enzyme hydrolyzes to succinylmonocholine and then to succinic acid. […] Pseudocholinesterase deficiency can result in higher levels of intact succinylcholine molecules reaching receptors in the neuromuscular junction, causing the duration of paralytic effect to continue for as long as 8 hours. […] This condition is recognized clinically when paralysis of respiratory and other skeletal muscles fails to spontaneously resolve after succinylcholine is administered as an adjunctive paralytic agent during anesthesia procedures.

• #51 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, and cocaine. Of these, its most clinically important substrate is the depolarizing neuromuscular blocking agent, succinylcholine, which the pseudocholinesterase enzyme hydrolyzes to succinylmonocholine and then to succinic acid. […] Pseudocholinesterase deficiency can result in higher levels of intact succinylcholine molecules reaching receptors in the neuromuscular junction, causing the duration of paralytic effect to continue for as long as 8 hours. […] This condition is recognized clinically when paralysis of respiratory and other skeletal muscles fails to spontaneously resolve after succinylcholine is administered as an adjunctive paralytic agent during anesthesia procedures.

• #52 Psuedocholinesterase Deficiency | Calgary Guide

  https://calgaryguide.ucalgary.ca/pseudocholinesterase-deficiency-pathophysiology-and-anesthetic-considerations/psuedocholinesterase-deficiency/

  Prolonged binding of neuromuscular blocking agent to nicotinic cholinergic receptors in neuromuscular junctions patients susceptibility to side effects from drugs with ester linkages […] Acetylcholine cannot act on receptor = skeletal muscle cant depolarize […] Skeletal muscle paralysis […] Since respiratory muscles are affected Apnea requiring sedation and respiratory assistance for up to several hours.

• #53 Cholinesterase – South Tees Hospitals NHS Foundation Trust

  https://www.southtees.nhs.uk/services/pathology/tests/cholinesterase/

  Pseudocholinesterase is formed in the liver, pancreas, heart and brain white matter, (not to be confused with acetylcholinesterase [true cholinesterase] which is found in the RBC’s and CSF). […] An absence or mutation of the pseudocholinesterase enzyme leads to a condition known as partial or complete pseudocholinesterase deficiency. […] This is a silent condition that only manifests itself when people who have the deficiency receive succinylcholine or mivacurium during surgery. […] In those patients with a genetically affected enzyme with reduced activity, the effect is to extend the duration of drug action, resulting in apnoea.

• #54 Cholinesterase – South Tees Hospitals NHS Foundation Trust

  https://www.southtees.nhs.uk/services/pathology/tests/cholinesterase/

  Pseudocholinesterase is formed in the liver, pancreas, heart and brain white matter, (not to be confused with acetylcholinesterase [true cholinesterase] which is found in the RBC’s and CSF). […] An absence or mutation of the pseudocholinesterase enzyme leads to a condition known as partial or complete pseudocholinesterase deficiency. […] This is a silent condition that only manifests itself when people who have the deficiency receive succinylcholine or mivacurium during surgery. […] In those patients with a genetically affected enzyme with reduced activity, the effect is to extend the duration of drug action, resulting in apnoea.

• #55 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body’s ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.

• #56 Pseudocholinesterase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/

  Pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, also known as butyrylcholinesterase, which is produced by the liver and circulates in the blood. The pseudocholinesterase enzyme is involved in the breakdown of choline ester drugs. It is likely that the enzyme has other functions in the body, but these functions are not well understood. Studies suggest that the enzyme may be involved in the transmission of nerve signals. […] Some BCHE gene mutations that cause pseudocholinesterase deficiency result in an abnormal pseudocholinesterase enzyme that does not function properly. Other mutations prevent the production of the pseudocholinesterase enzyme. A lack of functional pseudocholinesterase enzyme impairs the body’s ability to break down choline ester drugs efficiently, leading to abnormally prolonged drug effects.

• #57

  https://ronlitman.substack.com/p/pseudocholinesterase-deficiency-and

  If indeed true, low BChE levels may result in impaired arousal response to a given environmental challenge, whether it be infection, apnea, or CO2 rebreathing as a result of the prone position. […] The interaction between the cholinergic and serotonergic systems play an important role in the control of breathing, and may be crucial in the development of SIDS. […] Given what we know, however, physiologically low BChE levels in babies who develop SIDS make some sense. […] This enzyme also displays aryl acylamidase activity and enhances the activity of proteases such as trypsin. […] Moreover, BChE might be associated with cellular proliferation and neurite growth during the development of the nervous system, and it is logical to theorize that low levels of this enzyme might negatively affect the breathing and arousal pathways of the newborn. […] Despite the multiplicity of potential pathophysiologic mechanisms in SIDS, these preliminary results of a potentially predictable biomarker are exciting and well need to keep our eyes open as more studies are performed in the attempt to validate these findings.

• #58

  https://ronlitman.substack.com/p/pseudocholinesterase-deficiency-and

  If indeed true, low BChE levels may result in impaired arousal response to a given environmental challenge, whether it be infection, apnea, or CO2 rebreathing as a result of the prone position. […] The interaction between the cholinergic and serotonergic systems play an important role in the control of breathing, and may be crucial in the development of SIDS. […] Given what we know, however, physiologically low BChE levels in babies who develop SIDS make some sense. […] This enzyme also displays aryl acylamidase activity and enhances the activity of proteases such as trypsin. […] Moreover, BChE might be associated with cellular proliferation and neurite growth during the development of the nervous system, and it is logical to theorize that low levels of this enzyme might negatively affect the breathing and arousal pathways of the newborn. […] Despite the multiplicity of potential pathophysiologic mechanisms in SIDS, these preliminary results of a potentially predictable biomarker are exciting and well need to keep our eyes open as more studies are performed in the attempt to validate these findings.

• #59

  https://ronlitman.substack.com/p/pseudocholinesterase-deficiency-and

  In the current triple risk model, SIDS occurs when 3 factors occur simultaneously: a vulnerable infant, a critical developmental period for homeostatic control, and an exogenous stressor. […] Using dried blood spots samples routinely obtained in newborn screening, the authors found BChE was statistically lower in babies who subsequently died of SIDS compared to surviving controls and other Non-SIDS deaths. They concluded that BChE represents a measurable, biochemical marker in SIDS infants prior to their death for SIDS. […] Low BChE activity is thought to reflect decreased availability of ACh and thus an altered cholinergic homeostasis and several studies have found that low BChE activity is associated with severe systemic inflammation and a significant higher mortality after sepsis and cardiac events.

• #60

  https://ronlitman.substack.com/p/pseudocholinesterase-deficiency-and

  If indeed true, low BChE levels may result in impaired arousal response to a given environmental challenge, whether it be infection, apnea, or CO2 rebreathing as a result of the prone position. […] The interaction between the cholinergic and serotonergic systems play an important role in the control of breathing, and may be crucial in the development of SIDS. […] Given what we know, however, physiologically low BChE levels in babies who develop SIDS make some sense. […] This enzyme also displays aryl acylamidase activity and enhances the activity of proteases such as trypsin. […] Moreover, BChE might be associated with cellular proliferation and neurite growth during the development of the nervous system, and it is logical to theorize that low levels of this enzyme might negatively affect the breathing and arousal pathways of the newborn. […] Despite the multiplicity of potential pathophysiologic mechanisms in SIDS, these preliminary results of a potentially predictable biomarker are exciting and well need to keep our eyes open as more studies are performed in the attempt to validate these findings.

• #61 Pseudocholinesterase Deficiency: Background, Etiology, Pathophysiology

  https://emedicine.medscape.com/article/247019-overview

  Pseudocholinesterase deficiency results in delayed metabolism of only a few compounds of clinical significance, including the following: succinylcholine, mivacurium, procaine, and cocaine. Of these, its most clinically important substrate is the depolarizing neuromuscular blocking agent, succinylcholine, which the pseudocholinesterase enzyme hydrolyzes to succinylmonocholine and then to succinic acid. […] Pseudocholinesterase deficiency can result in higher levels of intact succinylcholine molecules reaching receptors in the neuromuscular junction, causing the duration of paralytic effect to continue for as long as 8 hours. […] This condition is recognized clinically when paralysis of respiratory and other skeletal muscles fails to spontaneously resolve after succinylcholine is administered as an adjunctive paralytic agent during anesthesia procedures.

• #62 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Pseudocholinesterase deficiency, commonly referred to as Butyrylcholinesterase deficiency, is a rare, inherited, or acquired condition that results in decreased or absent enzymatic activity. Pseudocholinesterase is a plasma enzyme that is responsible for the breakdown of succinylcholine and mivacurium, which are commonly used paralytic agents. […] This disorder is marked by a decrease or absence of the pseudocholinesterase enzyme. This enzyme is a product of liver synthesis and aids in the degradation and hydrolysis of anesthetic esters including muscle relaxants such as succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, and affected individuals inherit mutations on the butyrylcholinesterase gene, which is located on chromosome 3. Heterozygotes inherit one copy of the defective gene while homozygotes inherit both defective genes.

• #63 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  The plasma cholinesterase activity level is genetically determined by four alleles identified as silent (s), usual allele (u), dibucaine (d), or fluoride (f); also, this allele can be absent (a). […] When succinylcholine is used for anesthesia, its high plasma concentration immediately after intravenous injection decreases rapidly in normal individuals because of the rapid action of plasma PCE. In case of an atypical PCE or complete absence of PCE, the effect of the injected succinylcholine can last for up to 10 hours.

• #64 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency can be caused by a gene change (mutation) that is inherited. This condition can also be caused by illness, injury or certain medications. […] Pseudocholinesterase deficiency causes the muscles to stay relaxed for too long after getting succinylcholine. This prevents you from moving or breathing on your own for a few hours longer than expected. How long it takes your body to metabolize the drug depends on how much pseudocholinesterase enzyme you produce and how well it functions. […] Inherited pseudocholinesterase deficiency is caused by a change in the butyrylcholinesterase (BCHE) gene. This gene provides the instructions to make the pseudocholinesterase enzyme that’s needed to break down choline esters. If you have this changed gene, either you don’t produce this enzyme or the enzyme does not work well.

• #65 Pseudocholinesterase Deficiency: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency is a condition that makes you extremely sensitive to a specific group of anesthetic medications, known as muscle relaxants. As a result of this enzyme deficiency, you can develop prolonged side effects like temporary muscle paralysis. People with this condition cant move or breathe on their own until the medication flushes out of their system. […] It happens when your body doesnt produce enough pseudocholinesterase an enzyme that helps metabolize (break down) medications (called choline esters) used during general anesthesia. […] People who inherit the condition have a mutation (change) in their BCHE gene. This gene contains instructions that your body uses to make the pseudocholinesterase enzyme. If you have the BCHE gene mutation, you either produce very little pseudocholinesterase enzyme or you dont produce it at all.

• #66 Pseudocholinesterase deficiency | UM Health-Sparrow

  https://www.uofmhealthsparrow.org/departments-conditions/conditions/pseudocholinesterase-deficiency

  Pseudocholinesterase deficiency can be caused by a gene change (mutation) that is inherited. This condition can also be caused by illness, injury or certain medications. […] Pseudocholinesterase deficiency causes the muscles to stay relaxed for too long after getting succinylcholine. This prevents you from moving or breathing on your own for a few hours longer than expected. How long it takes your body to metabolize the drug depends on how much pseudocholinesterase enzyme you produce and how well it functions. […] Inherited pseudocholinesterase deficiency is caused by a change in the butyrylcholinesterase (BCHE) gene. This gene provides the instructions to make the pseudocholinesterase enzyme that’s needed to break down choline esters. If you have this changed gene, either you don’t produce this enzyme or the enzyme does not work well.

• #67 Pseudocholinesterase deficiency – Wikipedia

  https://en.wikipedia.org/wiki/Pseudocholinesterase_deficiency

  The plasma cholinesterase activity level is genetically determined by four alleles identified as silent (s), usual allele (u), dibucaine (d), or fluoride (f); also, this allele can be absent (a). […] When succinylcholine is used for anesthesia, its high plasma concentration immediately after intravenous injection decreases rapidly in normal individuals because of the rapid action of plasma PCE. In case of an atypical PCE or complete absence of PCE, the effect of the injected succinylcholine can last for up to 10 hours.

• #68 Pseudocholinesterase deficiency – Wikiwand

  https://www.wikiwand.com/en/articles/Pseudocholinesterase_deficiency

  Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body’s production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. […] This enzyme abnormality is a benign condition unless a person with pseudocholinesterase deficiency is exposed to the offending pharmacological agents. […] The inherited defect is caused by either the presence of an atypical PCE or complete absence of the enzyme. […] When succinylcholine is used for anesthesia, its high plasma concentration immediately after intravenous injection decreases rapidly in normal individuals because of the rapid action of plasma PCE. In case of an atypical PCE or complete absence of PCE, the effect of the injected succinylcholine can last for up to 10 hours. […] If this condition is recognized by the anesthesiologist early, then there is rarely a problem, as the patient can be kept intubated and sedated until the muscle relaxation resolves. […] Inhibition studies may also be performed to give more information about potential risk.

• #69 Pseudocholinesterase deficiency – Wikiwand

  https://www.wikiwand.com/en/articles/Pseudocholinesterase_deficiency

  Pseudocholinesterase deficiency is an autosomal recessive inherited blood plasma enzyme abnormality in which the body’s production of butyrylcholinesterase (BCHE; pseudocholinesterase aka PCE) is impaired. […] This enzyme abnormality is a benign condition unless a person with pseudocholinesterase deficiency is exposed to the offending pharmacological agents. […] The inherited defect is caused by either the presence of an atypical PCE or complete absence of the enzyme. […] When succinylcholine is used for anesthesia, its high plasma concentration immediately after intravenous injection decreases rapidly in normal individuals because of the rapid action of plasma PCE. In case of an atypical PCE or complete absence of PCE, the effect of the injected succinylcholine can last for up to 10 hours. […] If this condition is recognized by the anesthesiologist early, then there is rarely a problem, as the patient can be kept intubated and sedated until the muscle relaxation resolves. […] Inhibition studies may also be performed to give more information about potential risk.

• #70 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  Individuals with certain health conditions like cancer, severe burns, heart attack, heart failure, pregnancy, liver disease, hemodialysis, and chronic infections may develop a secondary form of pseudocholinesterase deficiency. These conditions may cause reduced levels of the pseudocholinesterase enzyme, making the patient more likely to experience long-lasting muscle weakness with standard doses of succinylcholine or mivacurium. […] The main treatment for this condition is respiratory support with the help of a mechanical ventilator. This system helps the patient breathe until their own muscle function begins to recover naturally. […] The preferred treatment is to provide support with sedation (medications to help the patient relax or sleep) and mechanical ventilation (machine-assisted breathing), until recovery takes place usually occurring within several hours. This approach is deemed to carry less risk than the alternatives, which include a transfusion of plasma (liquid part of the blood) or the use of other medications to try and reverse the paralysis.

• #71 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  Individuals with certain health conditions like cancer, severe burns, heart attack, heart failure, pregnancy, liver disease, hemodialysis, and chronic infections may develop a secondary form of pseudocholinesterase deficiency. These conditions may cause reduced levels of the pseudocholinesterase enzyme, making the patient more likely to experience long-lasting muscle weakness with standard doses of succinylcholine or mivacurium. […] The main treatment for this condition is respiratory support with the help of a mechanical ventilator. This system helps the patient breathe until their own muscle function begins to recover naturally. […] The preferred treatment is to provide support with sedation (medications to help the patient relax or sleep) and mechanical ventilation (machine-assisted breathing), until recovery takes place usually occurring within several hours. This approach is deemed to carry less risk than the alternatives, which include a transfusion of plasma (liquid part of the blood) or the use of other medications to try and reverse the paralysis.

• #72 Pseudocholinesterase Deficiency – MD Searchlight

  https://mdsearchlight.com/health/pseudocholinesterase-deficiency/

  For those patients who have already been diagnosed with pseudocholinesterase deficiency, the approach is to avoid using the drugs succinylcholine and mivacurium, which block nerve signals to muscles. Instead, doctors recommend using other safe alternatives for future anesthetic procedures such as atracurium, rocuronium, and vecuronium.

• #73 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Dibucaine number indicates zygosity and genetic origin of disease. Dibucaine is a local anesthetic agent that inhibits the enzymatic activity of pseudocholinesterase; the lower the quantity of dibucaine, the lower the absolute inhibition of dibucaine and therefore the lower the dibucaine number. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. This involves properly educating patients on this new diagnosis. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #74 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php?jid=ijaa

  Dibucaine number indicates zygosity and genetic origin of disease. Dibucaine is a local anesthetic agent that inhibits the enzymatic activity of pseudocholinesterase; the lower the quantity of dibucaine, the lower the absolute inhibition of dibucaine and therefore the lower the dibucaine number. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. This involves properly educating patients on this new diagnosis. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

• #75 Pseudocholinesterase Deficiency and Patient Perspectives

  https://clinmedjournals.org/articles/ijaa/international-journal-of-anesthetics-and-anesthesiology-ijaa-8-124.php

  Dibucaine number indicates zygosity and genetic origin of disease. […] The mainstay of treatment is continued mechanical ventilation with sedation and continued peripheral nerve monitoring until paralysis ends and spontaneity of muscle activity returns. […] To prevent future incidence of prolonged paralysis, patients with pseudocholinesterase deficiency should avoid succinylcholine and mivacurium. […] Pseudocholinesterase deficiency is inherited in an autosomal recessive manner; however, given the large genetic component, it is recommended that immediate family members get tested.

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