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Disease Profile

Pseudocholinesterase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Succinylcholine Sensitivity; Apnea, Postanesthetic; Cholinesterase 2 Deficiency;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Pseudocholinesterase deficiency is a condition that causes increased sensitivity to certain muscle relaxant drugs used during general anesthesia (choline esters). These drugs relax the muscles used for movement, including those used for breathing. Normally, the muscles are able to move again a few minutes after the drugs are given. People with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after these drugs are given. They therefore may need mechanical ventilation until the drugs are cleared from the body. People with this condition may also have increased sensitivity to other types of drugs as well as to some agricultural pesticides.[1]

Pseudocholinesterase deficiency can be inherited (genetic) or acquired. When it is inherited, it is autosomal recessive and caused by mutations in the BCHE gene. Acquired pseudocholinesterase deficiency may have various causes such as chronic infection, kidney or liver disease, malnutrition, major burns, cancer, or various medications.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal enzyme/coenzyme activity
0012379
30%-79% of people have these symptoms
Respiratory failure
0002878
1%-4% of people have these symptoms
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Chronic infection
0031035
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Myocardial infarction
Heart attack
0001658
Neoplasm
0002664
Paralysis
Inability to move
0003470
Respiratory failure requiring assisted ventilation
0004887

Cause

There are both genetic (inherited) and acquired causes of pseudocholinesterase deficiency.[2][1]

Inherited pseudocholinesterase deficiency can be caused by mutations in the BCHE gene. This gene provides instructions for making the pseudocholinesterase enzyme, known as butyrylcholinesterase. This enzyme is made by the liver and circulates in the blood. It is involved in breaking down (metabolizing) choline ester drugs. Mutations that cause pseudocholinesterase deficiency either impair the function or production of butyrylcholinesterase. This impairs the body's ability to effectively metabolize choline ester drugs, leading to the abnormally prolonged effects of these drugs.[1]

Acquired pseudocholinesterase deficiency is not inherited and cannot be passed to the next generation. This form of the condition is caused by impairment of the enzyme's function due to factors such as kidney or liver disease, malnutrition, major burns, cancer, or certain drugs.[1][2]

Diagnosis

Pseudocholinesterase deficiency often is first suspected after an episode of prolonged respiratory paralysis following general anesthesia. The diagnosis is confirmed by a blood test that measures pseudocholinesterase enzyme activity.[2]

People with pseudocholinesterase deficiency should warn their relatives to be tested before surgery since the condition is often inherited. People who have relatives who have died for unknown reasons during surgery should be screened for the deficiency prior to undergoing surgery.[3]

Treatment

People with known pseudocholinesterase deficiency should avoid exposure to sources of choline esters. Treatment of prolonged respiratory paralysis following surgery often involves mechanical ventilatory support until the paralysis resolves on its own. In most cases, recovery happens without the need for medical assistance.[4][2]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Mayo Clinic has an information page on Pseudocholinesterase deficiency.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Pseudocholinesterase deficiency. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudocholinesterase deficiency. Click on the link to view a sample search on this topic.

References

  1. Pseudocholinesterase deficiency. Genetics Home Reference. April 2012; https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency.
  2. Daniel R Alexander. Pseudocholinesterase Deficiency. Medscape Reference. September 17, 2015; https://emedicine.medscape.com/article/247019-overview.
  3. Pseudocholinesterase Deficiency. NORD. 2005; https://rarediseases.org/rare-diseases/pseudocholinesterase-deficiency/.
  4. Pseudocholinesterase Deficiency. Mayo Clinic. April 18, 2016; https://www.mayoclinic.org/diseases-conditions/pseudocholinesterase-deficiency/home/ovc-20200771.

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