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3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition. It is also known by other names such as 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria, and 3-methylcrotonylglycinemia. The condition is associated with a deficiency of the enzyme 3-methylcrotonyl-CoA carboxylase, which is essential for the breakdown of amino acids.

The condition has an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. The frequency of the condition is low, with an estimated prevalence of 1 in 100,000 to 1 in 300,000 people.

3-methylcrotonyl-CoA carboxylase deficiency can cause a range of symptoms, including developmental delay, intellectual disability, seizures, poor appetite, and failure to thrive. Additional features may include an enlarged liver, elevated levels of organic acids in the urine, and respiratory difficulties.

The diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency can be confirmed through genetic testing, which can identify mutations in the genes associated with the condition. Treatment and management options for the condition may include a special diet low in amino acids, supplements, and medications to manage symptoms.

There is ongoing research and clinical trials investigating potential treatments and management strategies for 3-methylcrotonyl-CoA carboxylase deficiency. Resources for more information and support include advocacy organizations, scientific articles, and databases such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center.

References:

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– OMIM: 3-methylcrotonyl-CoA carboxylase deficiency

– Genetic and Rare Diseases Information Center: 3-methylcrotonyl-CoA carboxylase deficiency

– PubMed: 3-methylcrotonyl-CoA carboxylase deficiency

– ClinicalTrials.gov: 3-methylcrotonyl-CoA carboxylase deficiency

– Additional resources and articles on 3-methylcrotonyl-CoA carboxylase deficiency

Frequency

The frequency of 3-methylcrotonyl-CoA carboxylase deficiency varies among different populations. According to data from PubMed, this condition is considered to be rare. It is estimated to affect approximately 1 in 50,000 to 1 in 150,000 people worldwide. The frequency may be higher in certain populations due to founder effects or increased awareness and testing.

More research is needed to determine the exact frequency of this condition in different populations. For more information and resources on genetics, inheritance, and management of 3-methylcrotonyl-CoA carboxylase deficiency, additional articles can be found on OMIM, a comprehensive catalog of human genes and genetic disorders.

Patient advocacy organizations and rare disease centers may also provide support, information, and resources for people with 3-methylcrotonyl-CoA carboxylase deficiency and their families. ClinicalTrials.gov can be searched for ongoing research studies on the causes, clinical presentation, and management of this condition.

In individuals with 3-methylcrotonyl-CoA carboxylase deficiency, mutations in the MCCC1 or MCCC2 genes are the cause of the condition. These genes provide instructions for making the proteins that are involved in the normal function of 3-methylcrotonyl-CoA carboxylase, an enzyme that helps break down certain components of proteins called branched-chain amino acids. Mutations in either of these genes can impair the activity of the enzyme, leading to the build-up of toxic byproducts. This can cause damage to various organs and tissues in the body.

To learn more about the specific genes associated with 3-methylcrotonyl-CoA carboxylase deficiency, visit the Genetic Testing Registry (GTR) on the National Center for Biotechnology Information (NCBI) website. GTR is a clinical and research resource that provides information on genetic tests for a variety of diseases.

References:

  • OMIM (Online Mendelian Inheritance in Man). 3-Methylcrotonyl-CoA Carboxylase Deficiency. Accessed from: https://www.omim.org/entry/210200
  • PubMed. Search results for “3-methylcrotonyl-CoA carboxylase deficiency”. Accessed from: https://pubmed.ncbi.nlm.nih.gov/?term=3-methylcrotonyl-CoA+carboxylase+deficiency
  • ClinicalTrials.gov. Search results for “3-methylcrotonyl-CoA carboxylase deficiency”. Accessed from: https://clinicaltrials.gov/ct2/results?term=3-methylcrotonyl-CoA+carboxylase+deficiency
  • National Center for Biotechnology Information (NCBI). Genetic Testing Registry. Accessed from: https://www.ncbi.nlm.nih.gov/gtr/

Causes

The cause of 3-methylcrotonyl-CoA carboxylase deficiency is a mutation in the MCCC1 or MCCC2 gene. These genes provide instructions for making the enzyme 3-methylcrotonyl-CoA carboxylase, which is responsible for breaking down the amino acid leucine.

When there is a mutation in the MCCC1 or MCCC2 gene, the enzyme is not produced, or it is produced in a nonfunctional form. This leads to the accumulation of toxic substances in the body, which can cause damage to the brain and other organs.

The deficiency is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. If both parents are carriers of a mutation in the MCCC1 or MCCC2 gene, there is a 25% chance with each pregnancy for the child to have the deficiency.

Although 3-methylcrotonyl-CoA carboxylase deficiency is considered rare, it has been reported in different populations worldwide. The exact frequency of the condition is unknown.

Genetic testing can be done to confirm the diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency, and it can also identify the specific mutations in the MCCC1 or MCCC2 gene. This information is important for genetic counseling and family planning.

Research studies and clinical trials are ongoing to learn more about the causes, associated diseases, and management of this condition. Additional information can be found in scientific articles, resources from advocacy organizations, and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

It is important for patients and their families to learn about the causes, symptoms, and management of 3-methylcrotonyl-CoA carboxylase deficiency. They can seek support from patient advocacy organizations and connect with other people who have the condition or are affected by it.

Furthermore, a specialized diet low in leucine may be recommended to help manage the condition and prevent further damage. Close monitoring and regular follow-up with a metabolic center are important for the overall management and well-being of individuals with 3-methylcrotonyl-CoA carboxylase deficiency.

References:

See also  MITF gene

Learn more about the genes associated with 3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition that causes a variety of symptoms and health problems. It is caused by mutations in the gene that provides instructions for making the 3-methylcrotonyl-coenzyme A carboxylase enzyme.

To learn more about the genes associated with 3-methylcrotonyl-CoA carboxylase deficiency, you can explore the following resources:

  1. Genetic Information: Visit the National Center for Biotechnology Information’s Gene database to find information about the gene associated with 3-methylcrotonyl-CoA carboxylase deficiency (gene ID: 5665).
  2. Clinical Trials: Check out clinicaltrialsgov to find ongoing research studies and clinical trials related to 3-methylcrotonyl-CoA carboxylase deficiency.
  3. Scientific Articles: Search PubMed for scientific articles and research papers on 3-methylcrotonyl-CoA carboxylase deficiency to learn more about the genetics and management of this condition.
  4. Rare Diseases Information: Visit the National Institutes of Health’s Office of Rare Diseases Research to find additional information about 3-methylcrotonyl-CoA carboxylase deficiency, including its frequency, inheritance patterns, and associated symptoms.
  5. Gene Names: The HUGO Gene Nomenclature Committee’s Genenames catalog provides standardized names for genes, including the gene associated with 3-methylcrotonyl-CoA carboxylase deficiency (symbol: MCCC1).
  6. Advocacy and Support: The MCADCA (Medium Chain Acyl-CoA Dehydrogenase Deficiency Association) is an advocacy group that provides support, resources, and information for individuals and families affected by inherited metabolic diseases, including 3-methylcrotonyl-CoA carboxylase deficiency.

By learning more about the genes associated with 3-methylcrotonyl-CoA carboxylase deficiency, you can better understand the cause, inheritance patterns, and management options for this rare genetic condition.

Inheritance

3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for this condition must be mutated in order for an individual to be affected. Each parent of an affected individual is a carrier of a single mutated gene and is usually unaffected.

The gene associated with 3-methylcrotonyl-CoA carboxylase deficiency is the MCCC1 gene or the MCCC2 gene. Mutations in either of these genes can cause the condition.

This condition is very rare, with an estimated frequency of 1 in 50,000 to 1 in 250,000 people. It is more common in certain populations, such as those of Amish and Mennonite descent.

Testing for mutations in the MCCC1 and MCCC2 genes can be done to confirm a diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency. Genetic testing may also be recommended for family members of an affected individual, to determine if they are carriers of the gene mutation.

While 3-methylcrotonyl-CoA carboxylase deficiency is a genetic condition, it can also be caused by other factors. For example, some cases have been associated with viral infections. However, more research and scientific studies are needed to fully understand the causes and mechanisms of this condition.

There are currently no known ways to prevent or cure 3-methylcrotonyl-CoA carboxylase deficiency. Management of the condition typically involves a restricted diet and medical support to minimize symptoms and complications.

For more information on 3-methylcrotonyl-CoA carboxylase deficiency, you can visit the following resources:

  • OMIM: a catalog of human genes and genetic disorders, with additional information on the condition.
  • PubMed: a database of scientific articles and research studies on 3-methylcrotonyl-CoA carboxylase deficiency.
  • The Genetic and Rare Diseases Information Center (GARD): provides advocacy and support for individuals and families affected by rare diseases.
  • ClinicalTrials.gov: a database of clinical trials related to 3-methylcrotonyl-CoA carboxylase deficiency.

References:

  1. “3-methylcrotonyl-coenzyme A carboxylase deficiency.” OMIM. Accessed April 27, 2021. https://www.omim.org/entry/210200.
  2. “3-methylcrotonyl-CoA carboxylase deficiency.” Genetic and Rare Diseases Information Center (GARD). Accessed April 27, 2021. https://rarediseases.info.nih.gov/diseases/4330/3-methylcrotonyl-coa-carboxylase-deficiency.
  3. “3-methylcrotonyl-CoA carboxylase deficiency.” PubMed. Accessed April 27, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=3-methylcrotonyl-CoA+carboxylase+deficiency.
  4. “3-methylcrotonyl-CoA carboxylase deficiency.” ClinicalTrials.gov. Accessed April 27, 2021. .

Please note that this information is not exhaustive, and there may be other resources and articles available on this topic as well.

Other Names for This Condition

3-methylcrotonyl-CoA carboxylase deficiency is also known by several other names, including:

  • 3-methylcrotonylglycinuria
  • MCC deficiency
  • 3-methylcrotonyl-CoA carboxylase deficiency, (combined) complete or partial biotinidase deficiency type
  • Biotin-responsive 3-methylcrotonyl-CoA carboxylase deficiency
  • Propionic acidemia/methylmalonic aciduria, vitamin-responsive

This condition may also be referred to by its abbreviated forms, such as 3-MCC deficiency or MCCD.

Additional Information Resources

For additional information on 3-methylcrotonyl-CoA carboxylase deficiency, you may find the following resources useful:

  • Genetic Testing: Testing can be done to determine if a patient has a mutation in the gene responsible for this condition. You can learn more about genetic testing options from a healthcare provider or a genetic counselor.
  • Research Studies: There are ongoing research studies investigating the causes, inheritance patterns, and management of 3-methylcrotonyl-CoA carboxylase deficiency. You can find more information about these studies on clinicaltrialsgov.
  • Medical Literature: PubMed is a valuable resource for finding scientific articles and publications related to this condition. You can search for specific articles by entering relevant keywords.
  • Online Support and Advocacy: There are several online support groups and advocacy organizations that provide resources, information, and support for people affected by rare diseases, including 3-methylcrotonyl-CoA carboxylase deficiency. These groups can provide valuable insights and support from individuals going through similar experiences.
  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic conditions, and associated symptoms. It can be a valuable resource to learn more about the genetics and clinical manifestations of 3-methylcrotonyl-CoA carboxylase deficiency.
  • Diet and Management: The management of 3-methylcrotonyl-CoA carboxylase deficiency often involves a special diet and close monitoring of the patient’s condition. Healthcare providers and registered dietitians can provide guidance on appropriate dietary modifications to help manage the condition and prevent complications.

These resources can provide valuable information and support for individuals affected by 3-methylcrotonyl-CoA carboxylase deficiency and their families. It is important to consult with healthcare professionals for personalized advice and guidance.

Genetic Testing Information

Genetic testing plays an important role in the diagnosis and management of 3-methylcrotonyl-CoA carboxylase deficiency. This condition is caused by mutations in the genes that are responsible for the production of the 3-methylcrotonyl-coenzyme A carboxylase enzyme.

If a patient presents with symptoms of the deficiency, genetic testing can help confirm the diagnosis and identify the specific genetic mutations involved. This information can provide important insights into the underlying cause of the condition and guide appropriate management strategies.

Genetic testing for 3-methylcrotonyl-CoA carboxylase deficiency can be performed through various methods, such as DNA sequencing or targeted mutation analysis. These tests analyze specific regions of the genes associated with the condition to identify any mutations or abnormalities.

See also  Abetalipoproteinemia

There are several genes associated with 3-methylcrotonyl-CoA carboxylase deficiency, including MCCC1 and MCCC2. Mutations in these genes result in a reduction or complete absence of the enzyme’s activity, leading to the accumulation of toxic substances in the body.

For more information on genetic testing for 3-methylcrotonyl-CoA carboxylase deficiency, patients and healthcare providers can visit the following resources:

  • National Institutes of Health Genetic Testing Registry: This online database provides information on available genetic tests, including their purpose, methodology, and clinical validity. It also lists laboratories that offer testing for 3-methylcrotonyl-CoA carboxylase deficiency.
  • OMIM: The Online Mendelian Inheritance in Man database contains comprehensive information on genetic disorders, including 3-methylcrotonyl-CoA carboxylase deficiency. It provides an overview of the condition, associated genes, inheritance patterns, and more.
  • PubMed: This online database of scientific articles is a valuable resource for accessing research studies, case reports, and other publications related to 3-methylcrotonyl-CoA carboxylase deficiency. It offers in-depth information on the genetic basis, clinical manifestations, and management of the condition.
  • ClinicalTrials.gov: This website provides information on ongoing clinical trials investigating potential treatments and management approaches for 3-methylcrotonyl-CoA carboxylase deficiency. Patients and healthcare providers can find information on eligibility criteria, locations, and contact details to learn about participating in these studies.

In addition to these resources, patients and their families can seek support and advocacy from patient-centered organizations and rare disease communities. These organizations often provide additional information, resources, and assistance for individuals affected by 3-methylcrotonyl-CoA carboxylase deficiency.

Overall, genetic testing is crucial in understanding the causes and inheritance patterns of 3-methylcrotonyl-CoA carboxylase deficiency. The information obtained from genetic testing can aid in the diagnosis, management, and support for individuals with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides the public with access to reliable information on genetic and rare diseases. GARD is committed to improving the lives of individuals with rare diseases by facilitating research, promoting awareness, and providing support and resources to patients and their families.

3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins. It is caused by mutations in the MCCC1 or MCCC2 gene, which are responsible for producing the 3-methylcrotonyl-CoA carboxylase enzyme.

The deficiency can lead to a build-up of toxic substances in the body, which can cause damage to the brain, liver, and other organs. Symptoms of the condition can vary widely, but may include developmental delays, intellectual disability, seizures, and other neurological problems.

Research has shown that the frequency of 3-methylcrotonyl-CoA carboxylase deficiency is relatively low, with only a few hundred cases reported worldwide. However, the exact prevalence of the condition is unknown, as many cases may go undiagnosed or misdiagnosed.

Diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency is usually confirmed through genetic testing, which can identify mutations in the MCCC1 or MCCC2 gene. Additional testing may be done to assess the severity of the condition and monitor its progression.

Currently, there is no cure for 3-methylcrotonyl-CoA carboxylase deficiency. Management of the condition typically involves a specialized diet low in certain amino acids to help prevent the build-up of toxic substances. Close monitoring and regular medical care are also important for individuals with the condition.

GARD provides a range of resources and information for individuals with 3-methylcrotonyl-CoA carboxylase deficiency and their families, including links to scientific articles, patient advocacy organizations, and other related resources. The GARD website also offers information on clinical trials for this condition, with references to clinicaltrials.gov for more information on current studies.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency, there are several patient support and advocacy resources available to provide information, guidance, and support. These resources can help individuals and families navigate the challenges associated with this rare genetic condition.

1. Organizations and Support Groups

  • Genes-R-Us: This organization provides information, support, and resources for individuals affected by rare genetic disorders. They have a dedicated section on 3-methylcrotonyl-CoA carboxylase deficiency.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. They offer detailed information about the genes associated with 3-methylcrotonyl-CoA carboxylase deficiency.

2. Research Studies and Clinical Trials

  • ClinicalTrials.gov: This database provides information about ongoing clinical studies and trials related to 3-methylcrotonyl-CoA carboxylase deficiency. It enables patients to learn about potential treatment options and participate in research.

3. Diet and Management

  • 3-methylcrotonyl-CoA carboxylase Center: This center offers comprehensive information about the condition, including the causes, inheritance pattern, and management strategies. They also provide resources about specialized diets that may be beneficial for individuals with 3-methylcrotonyl-CoA carboxylase deficiency.

4. Additional Resources

  • National Organization for Rare Disorders (NORD): NORD is a trusted resource for rare diseases. They provide information about 3-methylcrotonyl-CoA carboxylase deficiency, including articles, references, and links to other relevant resources.
  • PubMed: PubMed is a database of scientific articles. It contains a wealth of research on 3-methylcrotonyl-CoA carboxylase deficiency and related topics.

These resources can help individuals and families affected by 3-methylcrotonyl-CoA carboxylase deficiency to better understand the condition, access necessary support and treatment options, and connect with others who are going through similar experiences.

Research Studies from ClinicalTrialsgov

Research studies and clinical trials are vital resources for learning more about rare genetic conditions such as 3-methylcrotonyl-CoA carboxylase deficiency. ClinicalTrialsgov is an online catalog of clinical studies conducted all over the world.

ClinicalTrialsgov provides valuable information on studies that focus on the causes, management, and inheritance of 3-methylcrotonyl-CoA carboxylase deficiency, as well as other related genetic conditions. Researchers conduct these studies to understand the underlying genes, frequency, and effects of the deficiency, as well as to develop better diagnostic and treatment approaches.

Patients and their families can find information about ongoing studies, eligibility criteria, and how to participate in these trials. ClinicalTrialsgov can be a valuable resource for those seeking additional information and support.

See also  Genes F

Furthermore, OMIM and PubMed are scientific databases that catalog articles and references related to 3-methylcrotonyl-CoA carboxylase deficiency and other rare diseases. These databases provide access to a wealth of information about the condition, including genetic testing, diet management, and associated damage.

Advocacy organizations and support groups offer additional resources and support for people affected by 3-methylcrotonyl-CoA carboxylase deficiency. These organizations can provide information about the condition, connect patients with others facing similar challenges, and advocate for research and funding.

  • ClinicalTrialsgov – The official website for finding clinical trials and research studies.
  • OMIM – Comprehensive genetics resource with information on the genes associated with 3-methylcrotonyl-CoA carboxylase deficiency.
  • PubMed – A database of scientific articles and references on various medical topics, including 3-methylcrotonyl-CoA carboxylase deficiency.
  • National Organization for Rare Disorders (NORD) – An advocacy organization providing support and resources for individuals and families affected by rare diseases.
Related resources:

By exploring these resources, patients and their families can learn more about 3-methylcrotonyl-CoA carboxylase deficiency, find support, and stay informed about the latest research studies and clinical trials.

Catalog of Genes and Diseases from OMIM

3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic condition that affects the body’s ability to break down certain proteins. It is caused by mutations in the gene that provides instructions for making the enzyme 3-methylcrotonyl-coenzyme A (CoA) carboxylase.

People with 3-methylcrotonyl-CoA carboxylase deficiency are unable to properly process a specific amino acid called leucine. As a result, harmful substances called organic acids build up in the blood and tissues, causing damage to the body’s organs and systems.

This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with 3-methylcrotonyl-CoA carboxylase deficiency each carry one copy of the mutated gene, but they typically do not show signs or symptoms of the condition.

There is currently no cure for 3-methylcrotonyl-CoA carboxylase deficiency, but it can be managed with a carefully controlled diet that limits the intake of leucine. This can help reduce the production of organic acids and prevent damage to the body.

Testing for 3-methylcrotonyl-CoA carboxylase deficiency can be done through genetic testing, which looks for mutations in the relevant gene. Additional diagnostic tests may include blood and urine tests to measure the levels of organic acids and other substances.

The OMIM database is a valuable resource for learning about the genes and diseases associated with 3-methylcrotonyl-CoA carboxylase deficiency. It provides detailed information about the condition, including clinical descriptions, genetic inheritance patterns, and references to scientific articles and studies.

In addition to OMIM, there are other resources available for support and advocacy for people with 3-methylcrotonyl-CoA carboxylase deficiency and other rare diseases. These include patient advocacy organizations, research centers, and websites that provide information about clinical trials and genetic testing.

By studying the genes and causes of 3-methylcrotonyl-CoA carboxylase deficiency, researchers can gain a better understanding of the condition and develop new treatments and management strategies. This research can lead to improved outcomes for individuals affected by this rare genetic disorder.

Resources Websites
OMIM OMIM.org
PubMed PubMed.gov
ClinicalTrials.gov ClinicalTrials.gov

By accessing these resources, patients and their families can find more information about 3-methylcrotonyl-CoA carboxylase deficiency, connect with community support, and learn about ongoing research and clinical trials.

Scientific Articles on PubMed

3-methylcrotonyl-CoA carboxylase deficiency is a rare genetic disease that causes damage to the body’s ability to break down certain proteins. This condition is associated with the 3-methylcrotonyl-coenzyme A carboxylase gene. Studies and research on this condition can be found in scientific articles on PubMed, a database of biomedical literature.

The frequency of 3-methylcrotonyl-CoA carboxylase deficiency is rare, and it is often diagnosed in childhood. The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected.

Scientific articles on PubMed provide valuable information about the causes, symptoms, and management of 3-methylcrotonyl-CoA carboxylase deficiency. They also discuss genetic testing, diet recommendations, and other resources available for this condition.

Researchers and advocacy groups have conducted studies to learn more about this rare disease. Additional information can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov, which catalog clinical trials and provide support for people with rare diseases.

Furthermore, scientific articles on PubMed cover other related topics, such as the genetic basis of other rare diseases and the use of viral vectors for gene therapy. These articles contribute to the growing body of knowledge on 3-methylcrotonyl-CoA carboxylase deficiency and its associated genes.

In conclusion, PubMed is an excellent resource for finding scientific articles on 3-methylcrotonyl-CoA carboxylase deficiency and related topics. These articles provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about this rare genetic condition.

References

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