Pseudocholinesterase deficiency, also known as butyrylcholinesterase deficiency, is a rare genetic condition that affects the body’s ability to break down certain medicines and chemicals. It is caused by mutations in the BCHE gene, which provides instructions for making an enzyme called pseudocholinesterase. Pseudocholinesterase is found primarily in the liver and plays a key role in metabolizing drugs called choline esters, including some anesthesia medications.

People with pseudocholinesterase deficiency are more susceptible to the effects of these drugs, which can lead to prolonged paralysis and respiratory depression during anesthesia. This condition is typically inherited in an autosomal recessive manner, which means that both copies of the BCHE gene in each cell have mutations. The signs and symptoms of pseudocholinesterase deficiency can vary widely among affected individuals, ranging from mild sensitivity to severe reactions.

The frequency of pseudocholinesterase deficiency in the general population is estimated to be around 1 in 2,500 to 1 in 5,000 individuals, but it can be more common in certain populations. Genetic testing and genotyping are available to confirm a diagnosis of pseudocholinesterase deficiency. It is important for patients with this condition to be aware of their genetic status, as it can significantly impact their medical care, including anesthesia administration.

There is currently no cure for pseudocholinesterase deficiency. Treatment focuses on managing symptoms and avoiding medications that can cause adverse reactions. Clinical trials and research studies are ongoing to learn more about the genetics and underlying causes of this condition. Additional support and advocacy resources can be found through organizations like the Pseudocholinesterase Deficiency Association.

Frequency

This condition is considered to be a rare genetic disorder. The exact frequency of pseudocholinesterase deficiency is unknown, but it is estimated to affect approximately 1 in 3,000 individuals worldwide.

This information is based on available scientific research and data from various resources, including the OMIM (Online Mendelian Inheritance in Man) database, PubMed articles, and clinicaltrialsgov. It is important to note that the frequency may vary among different populations and ethnicities.

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Pseudocholinesterase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene associated with this condition must be altered for a person to be affected. Carriers of one altered gene copy are typically unaffected but can pass the condition on to their children.

Additional research and genetic studies are ongoing to learn more about the causes and inheritance patterns of this rare disease. The National Institutes of Health (NIH) and other scientific research centers support research and advocacy efforts for patients with pseudocholinesterase deficiency.

Clinical testing and genotyping are available to diagnose this condition. The finding of two altered gene copies confirms the diagnosis. Genetic counseling and support from advocacy groups and patient resources can provide more information and assistance to individuals and their families affected by pseudocholinesterase deficiency.

Patients with pseudocholinesterase deficiency may present with a variety of signs and symptoms, including neuromuscular abnormalities. It is essential to consult with a healthcare professional for proper diagnosis, management, and treatment options.

For more information on pseudocholinesterase deficiency, you can refer to the OMIM catalog, PubMed articles, and clinicaltrialsgov.

Causes

The main cause of pseudocholinesterase deficiency is genetic inheritance. This condition is rare and can be caused by mutations in the BCHE gene. Pseudocholinesterase deficiency is also known as butyrylcholinesterase deficiency or plasma cholinesterase deficiency.

Research published on PubMed provides additional information about the causes of pseudocholinesterase deficiency. Scientific articles and clinical studies have found that mutations in the BCHE gene are associated with this condition. Genotyping studies have shown that patients with pseudocholinesterase deficiency have specific genetic changes in this gene.

In addition to BCHE gene mutations, other genes may also play a role in the development of pseudocholinesterase deficiency. Studies have shown that certain rare diseases and neuromuscular conditions are also associated with this deficiency.

Information on the frequency of pseudocholinesterase deficiency is available from genetic testing resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide data on the prevalence of specific gene mutations in different populations.

Patients and their families can learn more about the causes of pseudocholinesterase deficiency through support groups and patient resources. These organizations can provide information on the genetic inheritance patterns, signs, and symptoms of the condition.

ClinicalTrials.gov is another valuable resource for research on pseudocholinesterase deficiency. This database contains information about ongoing clinical trials and research studies focused on this condition. Patients and their families can find information on new treatments, genetic testing, and other research advancements through this platform.

Learn more about the gene associated with Pseudocholinesterase deficiency

Pseudocholinesterase deficiency is a rare genetic condition that causes a deficiency of an enzyme called pseudocholinesterase. This enzyme is responsible for breaking down certain medications and chemicals in the body.

The gene associated with Pseudocholinesterase deficiency is called BCHE. The BCHE gene provides instructions for making the pseudocholinesterase enzyme. Mutations in this gene can lead to reduced or absent enzyme activity, resulting in the signs and symptoms of Pseudocholinesterase deficiency.

Studies have identified various mutations in the BCHE gene that are associated with Pseudocholinesterase deficiency. These mutations can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Pseudocholinesterase deficiency is typically diagnosed in patients who experience abnormal responses to certain medications or anesthesia. Symptoms may include prolonged paralysis after surgery, increased sensitivity to certain drugs, or adverse reactions to anesthesia.

If you are interested in learning more about the gene associated with Pseudocholinesterase deficiency, you can find additional information in scientific articles on PubMed and OMIM. These resources provide in-depth information on the genetics, inheritance patterns, and characteristics of this condition.

For patients and families affected by Pseudocholinesterase deficiency, there are also advocacy and support organizations that can provide resources and information. Some of these organizations include the Pseudocholinesterase Deficiency Support Center and the Rare Genomics Institute.

In addition, there are ongoing clinical trials and research studies aimed at better understanding Pseudocholinesterase deficiency and developing potential treatments. ClinicalTrials.gov is a valuable resource for finding current information on clinical trials related to this condition.

For genetic testing and genotyping services related to Pseudocholinesterase deficiency, you can consult specialized laboratories and genetic testing centers. These facilities can provide information on testing options, sample collection, and result interpretation.

Overall, learning more about the gene associated with Pseudocholinesterase deficiency can help individuals and healthcare professionals gain a better understanding of this rare genetic disease and support efforts towards better diagnosis, treatment, and management of the condition.

Inheritance

Pseudocholinesterase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to have the condition.

Genes are the units of information that carry the instructions for making proteins in our bodies. In the case of pseudocholinesterase deficiency, mutations in the BCHE gene are associated with the condition.

Genetic testing can be done to determine if an individual carries mutations in the BCHE gene. This testing can be useful for both patients and their families, as it can provide information about the risk of passing the condition on to future generations.

Research articles on pseudocholinesterase deficiency can be found in various scientific resources, such as PubMed, OMIM, and clinicaltrials.gov. These resources provide information about the genetics, clinical signs, and treatment options for the disease.

Support and advocacy organizations, such as the Pseudocholinesterase Deficiency Support and Advocacy Center, can provide additional information and resources for patients and their families. They may offer support groups, educational materials, and help connect individuals with clinical trials or genetic counseling services.

It is important for individuals with pseudocholinesterase deficiency and their families to learn about the inheritance pattern of the condition and the associated genetic risks. This information can help individuals make informed decisions about family planning and can be useful for healthcare providers in providing appropriate care and support.

References:

• OMIM: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• ClinicalTrials.gov: https://www.clinicaltrials.gov
• Pseudocholinesterase Deficiency Support and Advocacy Center: https://www.pseudocholinesterase.org

Other Names for This Condition

Pseudocholinesterase deficiency is also known by other names:

• Plasma Cholinesterase Deficiency
• Butyrylcholinesterase Deficiency
• BCHE Deficiency
• Pseudocholinesterase Deficiency, Inheritance
• Pseudocholinesterase Deficiency, Genetic

This condition is caused by mutations in the BCHE gene. The BCHE gene provides instructions for making an enzyme called butyrylcholinesterase, which is found in many tissues throughout the body. The enzyme is responsible for breaking down certain compounds, including some medications, in the body.

For more information about this gene, please visit the BCHE gene page on Genetics Home Reference.

ClinicalTrials.gov provides information about clinical studies related to pseudocholinesterase deficiency. You can find information about ongoing trials by visiting this page: Pseudocholinesterase Deficiency Clinical Trials.

There are additional resources available to learn more about pseudocholinesterase deficiency and other related diseases:

• The Advocacy organization for Pseudocholinesterase Deficiency (ACPEG) provides support and resources for patients and their families. You can find more information on their website.
• The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genetic conditions, including pseudocholinesterase deficiency. You can find more information on the OMIM entry for pseudocholinesterase deficiency.

Scientific articles and research studies on pseudocholinesterase deficiency and related topics can be found on PubMed. You can find more information by searching for “pseudocholinesterase deficiency” on PubMed.

Additional Information Resources

The rare condition known as pseudocholinesterase deficiency, or simply cholinesterase deficiency, has various other names, such as butyrylcholinesterase deficiency, plasma cholinesterase deficiency, or pseudocholinesterase variant. It is a genetic disorder that affects the body’s ability to break down certain chemicals called cholinesterase.

For patients and their families seeking more information about this rare genetic disease, there are several resources available:

• Online Research Catalog of Human Genes and Genotypes (OMIM): OMIM is a comprehensive and regularly updated database that provides information about various genetic diseases and their associated genes. It offers detailed descriptions of the pseudocholinesterase deficiency, including its inheritance pattern and clinical features.
• PubMed: PubMed is a widely used search engine for accessing scientific articles and research papers. By searching keywords like “pseudocholinesterase deficiency” or “cholinesterase deficiency,” patients can find numerous scientific studies and case reports about the condition and its associated signs and symptoms.
• Advocacy and Support Organizations: There are advocacy groups and organizations dedicated to supporting patients with pseudocholinesterase deficiency and their families. These organizations provide resources, support networks, and educational materials to help patients better understand the condition and cope with its challenges. Some examples include the Pseudocholinesterase Deficiency Awareness Campaign and the Genetic Support Foundation.
• Centers for Disease Control and Prevention (CDC): The CDC is a reliable source of information about various genetic diseases, including pseudocholinesterase deficiency. Their website provides an overview of the condition, its causes, symptoms, and available testing options.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of ongoing and completed clinical trials. While there may not be specific clinical trials targeting pseudocholinesterase deficiency, patients can keep track of any related studies that may offer new insights or potential treatments.

It is important for patients with pseudocholinesterase deficiency to consult with healthcare professionals who specialize in genetics and neuromuscular diseases. These experts can provide personalized guidance and recommendations based on the individual patient’s condition.

By utilizing the aforementioned resources, patients and their families can learn more about pseudocholinesterase deficiency and access the latest information, research, and support available.

Genetic Testing Information

Genetic testing is a helpful tool for diagnosing and understanding the underlying causes of pseudocholinesterase deficiency. By analyzing a patient’s genetic material, researchers and clinicians can identify specific gene mutations that are associated with this rare condition. This valuable information can provide patients and their families with a better understanding of the condition and its inheritance patterns.

Genetic studies have identified several genes that play a role in pseudocholinesterase deficiency. One of the most well-known genes associated with this condition is called BCHE. Mutations in this gene can lead to a deficiency or dysfunction of the pseudocholinesterase enzyme, resulting in the signs and symptoms of the condition.

For patients with suspected pseudocholinesterase deficiency, genetic testing can confirm the diagnosis and provide additional information about the specific gene mutations present. This information can help clinicians tailor treatment plans and provide appropriate management strategies.

There are multiple resources available for genetic testing and genetic information related to pseudocholinesterase deficiency. These resources include scientific articles, research studies, and genetic databases.

• PubMed: PubMed is a large online database that provides access to scientific articles and research studies. It can be used to find articles on pseudocholinesterase deficiency and related genetic studies.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genetic disorders and their associated genes. It provides detailed information about the genetic causes of pseudocholinesterase deficiency.
• Genetic Testing Centers: There are specialized genetic testing centers that offer genotyping services for rare neuromuscular diseases like pseudocholinesterase deficiency. These centers can provide testing for known gene mutations associated with the condition.
• Advocacy and Support Organizations: Various organizations provide support, advocacy, and information for patients with pseudocholinesterase deficiency and their families. These organizations may have additional resources and information about genetic testing for this condition.

In addition to genetic testing, other clinical and laboratory tests may be performed for a comprehensive evaluation of the patient. These tests may include enzyme activity assays and the measurement of pseudocholinesterase levels in the blood.

It is important for patients and their families to learn about the genetic basis of pseudocholinesterase deficiency. Understanding the inheritance patterns and genetic causes of the condition can help individuals make informed decisions about family planning and potential risks for future generations.

References:

1. Roy A, et al. Pseudocholinesterase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews((r)). Seattle (WA): University of Washington, Seattle; 1993-2021. PMID: 20301670.
2. Jaffe M, et al. Pseudocholinesterase deficiency prevalence in patients undergoing spinal anesthesia with chloroprocaine. Arch Pathol Lab Med. 2005;129:596-601. PMID: 15859635.
3. ClinicalTrials.gov: This online registry provides a searchable database of clinical trials that are currently being conducted. Researchers may find ongoing or upcoming clinical trials related to the genetic testing and management of pseudocholinesterase deficiency on this platform.

Genes associated with pseudocholinesterase deficiency	Inheritance	Frequency
BCHE	Autosomal recessive	Rare

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource for patients and healthcare professionals that provides information about rare genetic conditions. One of the conditions featured on GARD is Pseudocholinesterase deficiency, which is a rare genetic disease.

Pseudocholinesterase deficiency, also known as Butyrylcholinesterase deficiency, is a genetic condition that affects the body’s ability to break down certain substances. It is caused by mutations in the BCHE gene and inherited in an autosomal recessive pattern. Rare cases of pseudocholinesterase deficiency have been associated with other genes as well.

Patients with pseudocholinesterase deficiency may experience signs and symptoms such as prolonged paralysis after administration of certain muscle relaxants, sensitivity to certain anesthetic drugs, or breathing problems during anesthesia. These symptoms can range from mild to severe, and their severity is often associated with the specific genetic mutation.

Testing for pseudocholinesterase deficiency can be done through genotyping or by measuring the activity of the pseudocholinesterase enzyme. Resources for genetic testing and further information about the condition can be found on the GARD website.

In addition to information on pseudocholinesterase deficiency, GARD provides resources and support for patients and their families. They offer information about clinical studies, advocacy groups, and support organizations that specialize in rare diseases. Patients can find information about ongoing research studies and clinical trials on the GARD website, OMIM database, PubMed, and ClinicalTrials.gov.

GARD also provides a catalog of rare diseases and their associated genes, as well as references to scientific research articles and publications. Patients can learn more about the frequency of this condition and find information about other rare diseases that may be associated with genetic variants in the BCHE gene.

For more information about pseudocholinesterase deficiency and other rare genetic conditions, patients can visit the GARD website or contact the GARD Information Center by phone or email. The GARD Information Center is staffed by genetic counselors and medical geneticists who can provide information and support to patients and their families.

Patient Support and Advocacy Resources

Pseudocholinesterase deficiency is a rare genetic condition associated with neuromuscular signs and symptoms. Patients with this condition may require additional support and advocacy resources to cope with the challenges they face.

Here are some resources where patients and their families can learn more about pseudocholinesterase deficiency, its causes, inheritance patterns, clinical trials, and patient support:

• National Institutes of Health: The National Institutes of Health (NIH) provides valuable information on genetic diseases, including pseudocholinesterase deficiency. Patients can access research articles, clinical trials, and information on genes associated with the condition through PubMed and other databases.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic disorders. Patients can find detailed information about pseudocholinesterase deficiency, including its clinical features, inheritance pattern, and associated genes.
• Genetic Testing and Genotyping: Patients and their families may benefit from genetic testing and genotyping to confirm the diagnosis of pseudocholinesterase deficiency. They can consult with their healthcare provider or genetic counselor for more information on available testing options.
• Patient Support and Advocacy Groups: There are various advocacy groups and organizations that provide support and resources to patients with rare genetic conditions. These groups offer educational materials, online communities, and networking opportunities to connect with others affected by pseudocholinesterase deficiency.
• Center for Rare Diseases: Some medical centers have specialized centers for rare diseases, where patients can receive comprehensive care and support. These centers often collaborate with research institutions and provide access to clinical trials and innovative treatment options.

By utilizing these resources, patients with pseudocholinesterase deficiency and their families can stay informed, connect with others, and access support in managing their condition.

Research Studies from ClinicalTrialsgov

The deficiency of pseudocholinesterase is a rare condition that causes neuromuscular signs and symptoms in affected patients. It is associated with a genetic mutation in the BCHE gene, which is responsible for encoding the body’s pseudocholinesterase enzyme. This enzyme is involved in the breakdown of certain substances in the body, including certain medications and toxins.

To learn more about this rare genetic condition, research studies are being conducted on clinicaltrialsgov. These studies aim to understand the frequency, causes, and inheritance patterns of pseudocholinesterase deficiency, as well as develop better diagnostic and treatment methods.

ClinicalTrialsgov is a valuable resource for finding ongoing research studies on various rare diseases, including pseudocholinesterase deficiency. It provides a catalog of studies, along with information about the research center, support and advocacy resources, and additional references for scientific articles and publications.

Genotyping is an important aspect of research studies on pseudocholinesterase deficiency. By analyzing the patient’s genetic makeup, researchers can identify specific gene mutations associated with the condition and better understand its underlying mechanisms.

Patients and their families can find comprehensive information about pseudocholinesterase deficiency on clinicaltrialsgov. This includes information about the signs and symptoms of the condition, genotyping testing, and available clinical trials for potential treatments.

Scientific articles and publications available on pubmed can also provide valuable information about pseudocholinesterase deficiency. They can help researchers and healthcare professionals stay updated on the latest advancements in the field and contribute to the development of better diagnostic and treatment methods.

In conclusion, research studies on pseudocholinesterase deficiency are being conducted on clinicaltrialsgov to further understand this rare genetic condition. These studies aim to improve knowledge about its causes, frequency, and inheritance patterns, and advance diagnostic and treatment options. Resources such as clinicaltrialsgov and pubmed provide additional information and support for patients, clinicians, and researchers involved in this field.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is a valuable resource for clinicians, researchers, and advocacy groups supporting patients with rare genetic diseases.

OMIM provides information about the causes, signs, and frequency of rare genetic conditions. The catalog includes genes associated with these diseases, as well as references to scientific articles and studies conducted on the topic. Genes and diseases can be searched using their names or OMIM ID numbers.

One of the diseases covered in the catalog is pseudocholinesterase deficiency. This condition, also known as butyrylcholinesterase deficiency, is a neuromuscular disorder. It is caused by mutations in the BCHE gene and affects the body’s ability to break down certain substances.

Patients with pseudocholinesterase deficiency may experience various signs and symptoms, including prolonged paralysis after administration of certain drugs, such as succinylcholine. The frequency of the condition in the population is relatively low, affecting around 1 in 3,000 to 1 in 5,000 individuals.

Genetic testing is available to confirm the diagnosis of pseudocholinesterase deficiency. Inheritance of the condition can vary, with some cases being inherited in an autosomal recessive manner and others sporadic. Additional resources and information for patients and their families can be found through advocacy groups and support organizations.

OMIM provides links to related resources, such as PubMed for additional scientific articles, clinicaltrials.gov for information about ongoing research and clinical trials, and Genetests for more clinical information about the disorder. This allows clinicians and researchers to stay up-to-date with the latest developments in the field.

In conclusion, OMIM is a valuable catalog of genes and diseases that provides comprehensive information about rare genetic conditions, including pseudocholinesterase deficiency. It is an essential resource for clinicians, scientists, and advocacy groups supporting patients with rare genetic diseases.

Scientific Articles on PubMed

If you are interested in learning more about pseudocholinesterase deficiency, there are several scientific articles available on PubMed that provide valuable information on this condition and related topics.

• Genotyping and body testing: Many studies have focused on genotyping and body testing to identify pseudocholinesterase deficiency in patients. These studies provide insight into the genetic causes of this condition and help researchers identify patterns and frequency of specific gene mutations.
• Neuromuscular effects: Other studies have explored the neuromuscular effects of pseudocholinesterase deficiency on patients. By understanding the signs and symptoms experienced by affected individuals, researchers can develop better strategies for diagnosis and management.
• Clinical trials: Clinical trials listed on ClinicalTrials.gov provide information on ongoing or completed research studies for pseudocholinesterase deficiency. These trials may focus on new treatments, therapeutic interventions, or improved testing methods.
• Advocacy and support: Patient advocacy groups and support organizations play a crucial role in raising awareness about pseudocholinesterase deficiency. Scientific articles may also highlight these resources and provide information on where patients and their families can find support and additional information.
• Rare diseases catalog: The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of rare diseases, including pseudocholinesterase deficiency. This resource offers a wealth of information, including references to scientific articles and other relevant materials.
• Pseudocholinesterase gene: Numerous studies have focused on the pseudocholinesterase gene itself, providing insights into its structure, function, and the genetic variations associated with pseudocholinesterase deficiency.

Scientific articles on PubMed offer a wealth of information on pseudocholinesterase deficiency, its causes, associated signs and symptoms, genotyping, and more. By exploring these articles, researchers, healthcare professionals, and patients can stay informed about the latest research and advancements in this field.

References

• PubMed – A search engine for scientific articles
• ClinicalTrials.gov – A database of clinical trials
• OMIM – Online Mendelian Inheritance in Man

1. Van Pelt AMM, Whyte J, Jones N, Dean R, Bowen D, Ansari BM. Clinical variability in patients homozygous for the V328M mutation in the butyrylcholinesterase gene: Pseudocholinesterase deficiency revisited. Clinical Genetics. 2004; 65(5):391-396.

2. Bollenbach A, Dracolakis E, Felhősi I. Pseudocholinesterase deficiency—rare causes of neuromuscular blocks during anesthesia. Zeitschrift für Orthopädie und Unfallchirurgie. 2020; 158(S 01):S1-S291.

3. OMIM Entry – Pseudo-Cholinesterase Deficiency (Pseudocholinesterase Deficiency). Available from: https://www.omim.org/entry/177400. Accessed May 2021.

4. ClinicalTrials.gov – Pseudocholinesterase Deficiency. Available from: https://clinicaltrials.gov/ct2/results?term=Pseudocholinesterase+Deficiency. Accessed May 2021.

5. PubMed – Search results for “Pseudocholinesterase Deficiency”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Pseudocholinesterase+Deficiency. Accessed May 2021.

6. Genet Tests Genet Test Mol Biomarkers – Search results for “Pseudocholinesterase Deficiency”. Available from: https://www.liebertpub.com/action/doSearch?AllField=Pseudocholinesterase+Deficiency&startPage=4&type=quick&pageSize=20. Accessed May 2021.

7. Patient Advocacy Organizations – Pseudocholinesterase Deficiency. Available from: https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/. Accessed May 2021.

8. Maarbjerg T, Hansen EG. Frequency of the normal pseudocholinesterase phenotypes in a Danish population, with comments on the D phenotype and Y-arylesterase activity. Human Heredity. 1980; 30(1):58-63.

9. Kadar M, Lalanne L, Lemonne N, et al. Pseudocholinesterase deficiency related to a point mutation V137M in the BCHE gene: a case series. BMC Anesthesiology. 2017; 17(1):68.

10. Singh H, Kaur K. Pseudocholinesterase Deficiency. [Updated 2021 Apr 16]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK482447/. Accessed May 2021.