Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to metabolize certain fatty acids. It is an inherited disorder that is characterized by a deficiency in the enzyme isobutyryl-CoA dehydrogenase. This deficiency can cause a variety of symptoms and health problems, and can be associated with a range of different genetic mutations.

For those affected by this deficiency, it is important to learn as much information about the condition as possible. Scientific articles and research studies can provide valuable insights into the causes, symptoms, and treatments of this condition. These resources can help patients and their families understand the inheritance patterns associated with the deficiency, as well as learn about potential treatment options and support services that may be available.

Additional information and support can be found through organizations such as the Genetic and Rare Diseases Information Center, which provides comprehensive resources on rare genetic diseases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are also valuable sources of scientific articles and research studies on isobutyryl-CoA dehydrogenase deficiency and related conditions.

Clinical trials may also be available to those with the deficiency, providing access to new treatments and therapies. ClinicalTrials.gov is a searchable database that provides information on ongoing studies and research opportunities. Advocacy groups and patient support organizations can also offer valuable support and resources for individuals and families affected by the condition.

In conclusion, isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition that can cause a range of health problems. Learning more about the condition through scientific articles, research studies, and genetic resources can help patients and their families better understand the causes, symptoms, and treatment options available. Additionally, connecting with advocacy groups and support organizations can provide valuable support and resources for those affected by this condition.

Frequency

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition caused by mutations in the ACAD8 gene. The frequency of this deficiency is not well established, but it is believed to be very rare. According to the OMIM catalog of human genes and genetic disorders, only a few cases have been reported in scientific literature.

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Isobutyryl-CoA dehydrogenase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ACAD8 gene must be mutated for a person to have the condition. This means that both parents of an affected individual are typically carriers of the mutation, without showing any symptoms.

More research is needed to understand the exact frequency and distribution of this condition. However, resources like PubMed, OMIM, and patient advocacy organizations provide additional information and support for individuals and families affected by isobutyryl-CoA dehydrogenase deficiency.

Genetic testing can help in detecting isobutyryl-CoA dehydrogenase deficiency. Many clinical research studies, listed on websites like clinicaltrials.gov, are currently being conducted to learn more about this condition and develop better diagnostic and treatment strategies.

For more information about isobutyryl-CoA dehydrogenase deficiency, including resources and support, you can visit the websites of organizations such as the Keppen Center for Rare Diseases or contact genetic counseling services.

Causes

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition caused by mutations in the IBDH gene. This gene provides instructions for making an enzyme called isobutyryl-CoA dehydrogenase, which is responsible for breaking down certain amino acids (isobutyryl-CoA) in the body.

There are several names for this condition, including isobutyryl-CoA dehydrogenase deficiency, IBDH deficiency, isobutyryl-CoA dehydrogenase (IBDH) deficiency, and others.

The inheritance pattern of isobutyryl-CoA dehydrogenase deficiency is autosomal recessive, which means that both copies of the IBDH gene in each cell have mutations. Individuals with only one mutated copy of the gene are considered carriers and typically do not show symptoms of the condition.

Isobutyryl-CoA dehydrogenase deficiency is detected through genetic testing, which can identify mutations in the IBDH gene. This testing can be done prenatally or after birth to confirm a diagnosis.

The exact frequency of isobutyryl-CoA dehydrogenase deficiency is not known, but it is considered a very rare condition. It has been reported in individuals of different ethnic backgrounds.

Other genetic conditions can cause similar symptoms to isobutyryl-CoA dehydrogenase deficiency, and it is important to rule out these conditions through additional testing. Some of these conditions include disorders of fatty acid oxidation and other organic acidemias.

Research on isobutyryl-CoA dehydrogenase deficiency and related genetic conditions is ongoing. Studies are being conducted to learn more about the genes involved, the clinical presentation of the condition, and potential treatments.

Support and advocacy groups, such as the Keppen Center for Patient and Family Advocacy, provide information, resources, and support for individuals and families affected by isobutyryl-CoA dehydrogenase deficiency and other rare genetic diseases.

For more information about isobutyryl-CoA dehydrogenase deficiency, genetic testing, and related research, the following resources may be helpful:

1. OMIM (Online Mendelian Inheritance in Man) catalog of genetic disorders: https://omim.org/
2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
3. ClinicalTrials.gov for information about ongoing clinical trials: https://www.clinicaltrials.gov/

These resources can provide additional information about isobutyryl-CoA dehydrogenase deficiency, including current research studies and references to relevant articles.

Learn more about the gene associated with Isobutyryl-CoA dehydrogenase deficiency

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to break down certain amino acids. This deficiency is caused by mutations in the ACAD8 gene, which provides instructions for making the isobutyryl-CoA dehydrogenase enzyme. This enzyme is involved in the breakdown of isobutyryl-CoA, a molecule that plays a role in the metabolism of fats and proteins.

Inheritance of Isobutyryl-CoA dehydrogenase deficiency is autosomal recessive, which means that an individual must inherit two copies of the mutated ACAD8 gene – one from each parent – in order to develop the condition. If a person has only one copy of the mutated gene, they are considered a carrier and do not typically experience any symptoms.

Isobutyryl-CoA dehydrogenase deficiency is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive and authoritative resource for information about genetic diseases. The OMIM entry for this condition provides additional information on the frequency of the condition, the signs and symptoms that may occur, and links to scientific articles and other resources for further research.

Patients and their families can also find support and advocacy through organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD). These organizations provide information, resources, and support networks for individuals and families affected by rare diseases, including Isobutyryl-CoA dehydrogenase deficiency.

Researchers and clinicians studying Isobutyryl-CoA dehydrogenase deficiency can access additional information and participate in clinical trials through resources such as ClinicalTrials.gov. These studies aim to gather data on the condition, develop new treatments, and improve the understanding of the genetic and biochemical mechanisms involved.

If you want to learn more about Isobutyryl-CoA dehydrogenase deficiency and the ACAD8 gene, you can explore articles and studies available on PubMed, a database of scientific publications in various fields of research.

Inheritance

Isobutyryl-CoA dehydrogenase deficiency is an inherited condition that affects the way the body breaks down certain amino acids, specifically isobutyryl-CoA. It is inherited in an autosomal recessive pattern, which means that both copies of the gene, one inherited from each parent, must have a mutation in order for the condition to be present.

When a person has isobutyryl-CoA dehydrogenase deficiency, their body is unable to break down isobutyryl-CoA properly, leading to a buildup of isobutyryl-CoA and related compounds in the body. This can result in a variety of symptoms and health problems.

The frequency of isobutyryl-CoA dehydrogenase deficiency is unknown, as it is a rare condition. It has been detected in very young patients, usually during newborn screening or when symptoms first appear. Genetic testing can help confirm a diagnosis of isobutyryl-CoA dehydrogenase deficiency.

There are no known names or other associated genes for isobutyryl-CoA dehydrogenase deficiency. The condition is cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic diseases and associated genes.

Additional resources for learning more about isobutyryl-CoA dehydrogenase deficiency and related conditions can be found on the OMIM website, as well as on PubMed, a database of scientific articles. ClinicalTrials.gov may also have information on research studies and clinical trials related to the condition.

Support and advocacy organizations, such as the Genetic and Rare Diseases Information Center, may provide further information and support for individuals and families affected by isobutyryl-CoA dehydrogenase deficiency.

In summary, isobutyryl-CoA dehydrogenase deficiency is an inherited condition that affects the way the body breaks down certain amino acids. It is inherited in an autosomal recessive pattern and is associated with a buildup of isobutyryl-CoA in the body. Genetic testing and resources such as OMIM, PubMed, and ClinicalTrials.gov can provide additional information on the condition.

Other Names for This Condition

Isobutyryl-CoA dehydrogenase deficiency is also known by other names, including:

• Isobutyryl-CoA dehydrogenase deficiency
• IBD deficiency
• Isobutyryl CoA dehydrogenase deficiency
• Isobutyryl-coenzyme A dehydrogenase deficiency
• Isobutyryl-Coenzyme A deficiency

These terms may be used interchangeably in scientific articles and resources, but they all refer to the same condition.

Additional Information Resources

Isobutyryl-CoA dehydrogenase deficiency, also known as 2-Methylbutyryl-CoA dehydrogenase deficiency, is a rare genetic condition that affects the body’s ability to break down a type of fat called isobutyryl-CoA. This deficiency is caused by mutations in the gene responsible for producing the enzyme isobutyryl-CoA dehydrogenase.

For patients and families who want to learn more about Isobutyryl-CoA dehydrogenase deficiency, there are several resources available:

• Genetic and Rare Diseases Information Center: Provides information about Isobutyryl-CoA dehydrogenase deficiency, including its symptoms, causes, and inheritance. [link]
• OMIM: Offers detailed scientific information about Isobutyryl-CoA dehydrogenase deficiency, including genetic mutations, clinical features, and related articles. [link]
• PubMed: Provides a collection of scientific studies and articles related to Isobutyryl-CoA dehydrogenase deficiency. [link]
• ClinicalTrials.gov: Lists ongoing or completed clinical trials related to Isobutyryl-CoA dehydrogenase deficiency. [link]
• Inherited Metabolic Disorders Database (IMD): Contains information about Isobutyryl-CoA dehydrogenase deficiency, including testing, treatment options, and patient support organizations. [link]

These resources can help patients and their families learn more about Isobutyryl-CoA dehydrogenase deficiency, find support groups, and stay up to date with the latest research and clinical trials associated with this condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Isobutyryl-CoA dehydrogenase deficiency. By analyzing an individual’s genet, scientists can learn more about the genes associated with this rare condition and the specific mutation or deficiency that causes it.

Genetic testing helps in detecting the deficiency by examining the patient’s DNA. It identifies any variations or abnormalities in the genes responsible for processing isobutyryl-CoA, a key molecule involved in the breakdown of certain fatty acids.

Additional information about Isobutyryl-CoA dehydrogenase deficiency can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. This resource provides comprehensive information on the genetic basis, clinical features, and research articles associated with various rare diseases, including this condition.

The OMIM catalog can be accessed at: https://omim.org

Research studies and clinical trials listed on ClinicalTrials.gov also provide valuable information on Isobutyryl-CoA dehydrogenase deficiency. This platform offers up-to-date information on ongoing clinical studies, treatment options, and patient resources.

For more information about Isobutyryl-CoA dehydrogenase deficiency, refer to the following resources:

• Scientific articles on PubMed related to Isobutyryl-CoA dehydrogenase deficiency
• Isobutyryl-CoA dehydrogenase deficiency patient support groups and advocacy organizations
• The Center for Rare Diseases, which specializes in rare genetic conditions
• References and studies on the Isobutyryl-CoA dehydrogenase deficiency gene

Genetic testing is a very useful tool in diagnosing Isobutyryl-CoA dehydrogenase deficiency and providing valuable information about the condition. By understanding the genes and inheritance patterns associated with this rare disease, patients and healthcare professionals can make informed decisions about treatment and management options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides advocacy and support for patients and their families, as well as information on available resources, research, clinical trials, and more.

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition that affects the breakdown of certain proteins and fats in the body. This deficiency is caused by mutations in the ACAD8 gene, which provides instructions for making a protein called isobutyryl-CoA dehydrogenase. When isobutyryl-CoA dehydrogenase is deficient or not working properly, isobutyryl-CoA cannot be properly processed, leading to a buildup of isobutyryl-CoA and other related compounds in the body.

Isobutyryl-CoA dehydrogenase deficiency is detected through genetic testing, which can identify mutations in the ACAD8 gene. This information helps with the diagnosis of the condition and can also assist in determining the inheritance pattern of the condition in affected families.

Very little is currently known about isobutyryl-CoA dehydrogenase deficiency, as it is a very rare condition. More research and studies are needed to learn about the condition, its associated symptoms and complications, and potential treatment options. The GARD center provides support and information for patients and families affected by isobutyryl-CoA dehydrogenase deficiency.

For additional information on isobutyryl-CoA dehydrogenase deficiency, you may refer to scientific articles available on PubMed and resources like OMIM. These sources provide more in-depth information on the genetics, clinical features, and management of the condition.

GARD also helps connect patients and families with ongoing research studies and clinical trials related to isobutyryl-CoA dehydrogenase deficiency. ClinicalTrials.gov is a useful resource for finding information on these studies and trials.

Overall, the Genetic and Rare Diseases Information Center (GARD) serves as a valuable resource for individuals seeking information on rare genetic conditions, including isobutyryl-CoA dehydrogenase deficiency. GARD provides advocacy, support, and access to the latest research, genetic testing, and clinical trial information.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Isobutyryl-CoA dehydrogenase deficiency, it is important to seek additional support and information about the disease. Isobutyryl-CoA dehydrogenase deficiency is a rare genetic disorder that affects the body’s ability to break down certain amino acids.

One resource that provides more information about Isobutyryl-CoA dehydrogenase deficiency is the Genetic and Rare Diseases Information Center (GARD). GARD is an online resource that provides information on rare diseases and connects patients with support groups and advocacy organizations.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for learning more about Isobutyryl-CoA dehydrogenase deficiency. OMIM provides comprehensive information on genes, genetic disorders, and associated clinical studies.

The Keppen Center for Patient Advocacy is an organization that provides support and advocacy for patients with rare diseases, including Isobutyryl-CoA dehydrogenase deficiency. They offer resources and assistance in navigating the healthcare system and finding appropriate care.

For patients who are interested in participating in clinical trials related to Isobutyryl-CoA dehydrogenase deficiency, ClinicalTrials.gov is a valuable resource. This database provides a listing of ongoing and completed clinical trials for a variety of genetic disorders, including Isobutyryl-CoA dehydrogenase deficiency.

In addition to these resources, there are scientific articles available on PubMed that provide further information on Isobutyryl-CoA dehydrogenase deficiency. These articles can help individuals and healthcare professionals stay informed about the latest research and advancements in the field.

Genetic testing is an important tool in diagnosing Isobutyryl-CoA dehydrogenase deficiency. By identifying specific genes and mutations, genetic testing can help determine the cause of the disorder and provide important information for treatment and management.

Overall, it is important for individuals with Isobutyryl-CoA dehydrogenase deficiency, their families, and healthcare providers to stay informed about the latest research, treatment options, and support resources available. By accessing these resources and staying connected with patient support and advocacy organizations, individuals with Isobutyryl-CoA dehydrogenase deficiency can receive the support and care they need.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov can provide valuable insights into the genetic condition known as Isobutyryl-CoA dehydrogenase deficiency. This rare inherited disorder is caused by mutations in the IBD gene, which leads to a deficiency in the enzyme isobutyryl-CoA dehydrogenase.

Patients with Isobutyryl-CoA dehydrogenase deficiency may experience a range of symptoms, including developmental delay, intellectual disability, seizures, and metabolic acidosis.

ClinicalTrials.gov is a comprehensive database that catalogs ongoing and completed research studies related to genetic diseases. By exploring the studies listed on ClinicalTrials.gov, patients, their families, and healthcare professionals can learn more about Isobutyryl-CoA dehydrogenase deficiency and find support from advocacy groups, research centers, and other resources.

Some of the topics covered in these research studies include:

• Genetic testing for Isobutyryl-CoA dehydrogenase deficiency
• The frequency and inheritance of this rare genetic condition
• Additional genes and genetic factors associated with Isobutyryl-CoA dehydrogenase deficiency
• The scientific basis and underlying causes of the condition
• Support and information for patients and their families

By participating in research studies listed on ClinicalTrials.gov, patients and their families can contribute to the advancement of knowledge about Isobutyryl-CoA dehydrogenase deficiency and potentially help improve diagnosis, treatment, and support for individuals affected by this rare condition.

For more information, patients and healthcare professionals can turn to additional resources such as PubMed, OMIM, and support organizations like the Keppen Center for Rare Genet and Young Scientists.

By staying informed about the latest research in Isobutyryl-CoA dehydrogenase deficiency, individuals and their families can better understand the condition and access necessary support and treatment options.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive research resource that provides information about genes and rare genetic diseases. One such rare genetic deficiency is Isobutyryl-CoA dehydrogenase deficiency.

Isobutyryl-CoA dehydrogenase deficiency is a very rare genetic condition characterized by the body’s inability to break down isobutyryl-CoA, a type of fatty acid. The condition is associated with a deficiency in the enzyme isobutyryl-CoA dehydrogenase, which is responsible for breaking down isobutyryl-CoA. This deficiency can lead to a buildup of toxic metabolites in the body and cause various health issues.

In the OMIM catalog, you can find information about Isobutyryl-CoA dehydrogenase deficiency under the OMIM ID number 611283. The catalog provides links to additional resources for testing and research related to this deficiency.

Isobutyryl-CoA dehydrogenase deficiency is typically detected through genetic testing. The catalog includes information about the genes that are associated with this condition, as well as the inheritance pattern of the deficiency.

For more information about Isobutyryl-CoA dehydrogenase deficiency, you can explore scientific articles and studies cited in the OMIM catalog. These references can help you learn more about the causes, clinical features, and frequency of this rare condition.

In addition to scientific resources, the OMIM catalog also provides links to advocacy and support organizations for Isobutyryl-CoA dehydrogenase deficiency. These organizations can offer support and resources for patients and their families.

To stay updated on the latest research and clinical trials for Isobutyryl-CoA dehydrogenase deficiency, you can visit the ClinicalTrials.gov website and search for relevant studies using keywords such as “Isobutyryl-CoA dehydrogenase deficiency” or “Isobutyryl-CoA dehydrogenase.” This can help you find opportunities to participate in clinical trials or access new treatments.

In summary, the OMIM catalog provides a comprehensive and valuable resource for researchers, healthcare professionals, and patients interested in learning more about Isobutyryl-CoA dehydrogenase deficiency and other rare genetic diseases.

Scientific Articles on PubMed

Isobutyryl-CoA dehydrogenase deficiency is a rare genetic condition that affects the metabolism of isobutyric acid. This condition is caused by a deficiency of the enzyme isobutyryl-CoA dehydrogenase. It is inherited in an autosomal recessive manner.

Detection of Isobutyryl-CoA dehydrogenase deficiency is important for the management and treatment of affected individuals. Scientific articles on PubMed provide valuable information about the causes, inheritance patterns, and clinical manifestations of this condition.

Research on Isobutyryl-CoA dehydrogenase deficiency helps to support genetic testing and provides additional resources for patients and healthcare providers. These articles contribute to the catalog of knowledge about rare diseases and the genes associated with them.

Scientific articles on PubMed also provide information about ongoing studies and clinical trials related to Isobutyryl-CoA dehydrogenase deficiency. The research and clinical trials listed on clinicaltrials.gov can help to advance our understanding of this condition and improve patient outcomes.

A comprehensive understanding of Isobutyryl-CoA dehydrogenase deficiency can be obtained by consulting scientific articles, genetic databases like OMIM, and advocacy resources. These sources provide more information about the condition, its associated genes, and available treatments.

By learning from scientific articles on Pubmed, healthcare providers and researchers can stay up-to-date with the latest advancements in the field of Isobutyryl-CoA dehydrogenase deficiency and contribute to the development of new treatments and interventions.

References:

1. “Catalog of Genes and Diseases” – OMIM
2. “Isobutyryl-CoA Dehydrogenase Deficiency” – Orphanet
3. “Isobutyryl-CoA Dehydrogenase Deficiency” – Genetics Home Reference
4. “Scientific articles on PubMed” – National Library of Medicine
5. “Isobutyryl-CoA dehydrogenase deficiency” – ClinicalTrials.gov

References

The following resources can provide additional information on Isobutyryl-CoA dehydrogenase deficiency:

• The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. Retrieved from https://www.omim.org/.
• PubMed is a database of scientific articles from various biomedical journals. Retrieved from https://pubmed.ncbi.nlm.nih.gov/.
• ClinicalTrials.gov provides information about ongoing clinical trials related to Isobutyryl-CoA dehydrogenase deficiency. Retrieved from https://www.clinicaltrials.gov/.
• The Genetics Home Reference provides information about the inheritance and associated genes of genetic conditions. Retrieved from https://ghr.nlm.nih.gov/.
• The Keppen Center for Patient Advocacy supports advocacy for rare diseases and provides resources for patients and families. Retrieved from https://www.keppen.org/.
• The National Organization for Rare Disorders (NORD) provides information and support for individuals with rare diseases. Retrieved from https://rarediseases.org/.