Isovaleric acidemia is a rare genetic condition that affects the way the body breaks down proteins from food. It is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is needed to properly metabolize the amino acid leucine. Without this enzyme, isovaleric acid builds up in the body and can cause a variety of symptoms.

Acute episodes of isovaleric acidemia can be life-threatening and may require immediate medical attention. Symptoms can include poor feeding, vomiting, rapid breathing, seizures, and a distinctive “sweaty feet” odor. If not treated promptly, these episodes can lead to coma and even death.

Isovaleric acidemia is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for the condition to occur in their child. It is estimated to affect about 1 in 100,000 to 250,000 individuals worldwide.

Diagnosis of isovaleric acidemia is typically made through newborn screening, which tests for the presence of certain substances in the blood that are indicative of the condition. Genetic testing can also be done to confirm the diagnosis and identify the specific gene mutations associated with the condition.

Treatment for isovaleric acidemia involves a specialized diet that limits the intake of certain amino acids, particularly leucine. This helps to reduce the levels of isovaleric acid in the body and prevent the occurrence of acute episodes. Additional supportive care may be necessary to manage symptoms and prevent complications.

Research into isovaleric acidemia is ongoing, with studies aimed at understanding the underlying genetic causes of the condition and developing new treatments. Advocacy organizations and rare disease resources such as OMIM and Genes-R-Us provide additional information and support for patients and families affected by isovaleric acidemia.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Frequency

The frequency of isovaleric acidemia is unknown, but it is considered a rare genetic condition. It is estimated to affect approximately 1 in 250,000 to 1 in 500,000 newborns worldwide.

Isovaleric acidemia is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to develop. If only one parent carries a single mutated gene, they are considered a carrier and are generally unaffected by the condition.

The condition is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is needed to break down the amino acid leucine. Without this enzyme, isovaleryl-CoA and isovaleric acid build up in the body, leading to the characteristic signs and symptoms of the condition.

Genetic testing is available to confirm a diagnosis of isovaleric acidemia. This testing can identify mutations in the IVD gene, which is responsible for producing isovaleryl-CoA dehydrogenase. Additional testing may be necessary to confirm the diagnosis and rule out other metabolic disorders.

There are no known ethnic or gender preferences for isovaleric acidemia. The condition can affect people of any ethnicity or gender.

Proper management of isovaleric acidemia requires a multidisciplinary approach, including dietary modification, medications, and close monitoring. It is important for patients with isovaleric acidemia to work closely with their healthcare team to learn how to properly manage the condition.

Support and resources are available for individuals and families affected by isovaleric acidemia. Numerous advocacy organizations and support groups provide information, education, and support for patients and their families.

Scientific studies, clinical trials, and genetic testing are ongoing to learn more about isovaleric acidemia and its causes. These studies aim to improve diagnosis and treatment options for this rare condition.

For more information about isovaleric acidemia, you can visit the following resources:

• Genetic and Rare Diseases Information Center (GARD)
• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• ClinicalTrials.gov
• Genetic testing centers and research institutions

References and articles on isovaleric acidemia and related topics can be found in scientific literature and medical journals specialized in genetics and metabolic diseases.

Causes

Isovaleric acidemia is a rare genetic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This deficiency prevents the body from properly breaking down certain amino acids, resulting in the accumulation of isovaleric acid.

The isovaleric acidemia gene is located on chromosome 15. Mutations in this gene can lead to the development of the condition. Inheritance of isovaleric acidemia is autosomal recessive, meaning that a person must inherit two copies of the mutated gene (one from each parent) in order to have the condition.

Genetic testing can be done to learn more about the specific gene mutations associated with isovaleric acidemia. This information can be helpful for diagnosing the condition and determining the best course of treatment.

Other causes of isovaleric acidemia include certain acute diseases that can trigger episode of metabolic decompensation in patients with the condition. It is important to identify and manage these triggers to prevent complications.

Additional information about the genetic causes of isovaleric acidemia can be found in scientific articles and genetic databases such as OMIM and Genetests. These resources provide detailed information about the genes and gene mutations associated with the condition.

Genetic testing is available for isovaleric acidemia. The frequency of this testing may vary depending on the specific population and the availability of testing resources. It is recommended that individuals with a family history of isovaleric acidemia or those with symptoms suggestive of the condition undergo genetic testing.

In addition to genetic testing, other diagnostic tests such as urine organic acid analysis and blood acylcarnitine analysis can be done to confirm the diagnosis of isovaleric acidemia. These tests can help identify the elevated levels of isovaleric acid and other metabolic abnormalities associated with the condition.

Support and advocacy groups can provide additional resources and information for patients and families affected by isovaleric acidemia. These organizations may offer support services, educational materials, and access to research studies and clinical trials.

References:

• “Isovaleric Acidemia.” OMIM. https://www.omim.org/entry/243500.
• “Isovaleric Acidemia.” Genetic Testing Registry (GTR). https://www.ncbi.nlm.nih.gov/gtr/conditions/C0079388/.
• “Isovaleric Acidemia.” Genetic and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov/diseases/7398/isovaleric-acidemia.
• “Isovaleric Acidemia.” PubMed. https://pubmed.ncbi.nlm.nih.gov/?term=isovaleric+acidemia.
• “Isovaleric Acidemia.” ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=Isovaleric+Acidemia&term=&type=&rslt=.
• “Isovaleric Acidemia.” Advocacy Organizations. https://rarediseases.org/rare-diseases/isovaleric-acidemia/.

Learn more about the gene associated with Isovaleric acidemia

Isovaleric acidemia is a rare genetic condition that is caused by a deficiency in the isovaleryl-CoA dehydrogenase (IVD) enzyme. This enzyme is encoded by the IVD gene, which is located on chromosome 15. The IVD gene provides instructions for making the isovaleryl-CoA dehydrogenase enzyme, which is responsible for breaking down the amino acid leucine.

During the breakdown of leucine, the isovaleryl-CoA dehydrogenase enzyme converts isovaleryl-CoA to a molecule called isobutyryl-CoA. In individuals with isovaleric acidemia, the IVD gene is unable to produce enough functional isovaleryl-CoA dehydrogenase enzyme, resulting in a buildup of isovaleryl-CoA in the body. This buildup leads to the characteristic signs and symptoms of the condition.

The IVD gene follows an autosomal recessive inheritance pattern, meaning that a person must inherit two mutated copies of the gene – one from each parent – in order to develop isovaleric acidemia. When both parents are carriers of a mutated IVD gene, there is a 25% chance with each pregnancy that the child will have the condition.

To diagnose isovaleric acidemia, genetic testing can be performed to identify mutations in the IVD gene. This testing typically involves sequencing the gene to look for specific changes or mutations that are known to cause the condition. Genetic testing can also be used to determine the carrier status of individuals who may be at risk for passing on the condition to their children.

For additional information on isovaleric acidemia and the IVD gene, there are many resources available. Scientific articles can be found on PubMed, a database of biomedical literature, by searching for keywords such as “isovaleric acidemia” or “IVD gene.” The Genetic and Rare Diseases Information Center (GARD) also provides in-depth information on this condition, including information on the IVD gene and its associated genetic changes.

Support and advocacy organizations, such as the Acute Fatty Acid Oxidation Disorders (FAOD) Family Support Group, can also provide resources and support for individuals and families affected by isovaleric acidemia. These organizations often provide information on genetic testing, research studies, clinical trials, and other aspects of managing the condition.

Through research studies and clinical trials, scientists are continuing to learn more about the IVD gene and its role in isovaleric acidemia. This ongoing research may lead to a better understanding of the condition and the development of new treatments or interventions.

References:

• “Isovaleric acidemia.” Genetics Home Reference. U.S. National Library of Medicine, Available from https://ghr.nlm.nih.gov/condition/isovaleric-acidemia.
• “Isovaleric acidemia.” National Organization for Rare Disorders. Available from https://rarediseases.org/rare-diseases/isovaleric-acidemia/.
• “IVD isovaleryl-CoA dehydrogenase.” Genetics Home Reference. U.S. National Library of Medicine, Available from https://ghr.nlm.nih.gov/gene/IVD.

Inheritance

Isovaleric acidemia (IVA) is a rare genetic condition with an autosomal recessive pattern of inheritance. This means that both copies of the gene responsible for IVA must be altered for a person to be affected by the condition. The gene associated with IVA is called the IVD gene.

IVA has a frequency of approximately 1 in 150,000 to 250,000 live births. In populations where consanguineous marriages are more common, such as certain regions of the Middle East and North Africa, the frequency is higher.

Studies have shown that mutations in the IVD gene are the most common cause of IVA. However, there have been a few rare cases of IVA caused by mutations in other genes.

Genetic testing can be done to confirm a diagnosis of IVA and identify the specific mutations within the IVD gene or other associated genes. This testing is usually done by sequencing the DNA, using a blood sample or other tissue, to look for mutations that may cause IVA.

More information about the inheritance and genetics of IVA can be found in scientific articles and resources such as the OMIM database, PubMed, and the National Center for Biotechnology Information (NCBI). These resources provide further information on the symptoms, genes, and inheritance patterns of IVA.

Patients and their families can also find support and additional information through advocacy groups and patient support organizations. ClinicalTrials.gov may have information on current research studies and clinical trials that are investigating new treatments or management strategies for IVA.

Other Names for This Condition

Isovaleric acidemia is also known by other names, including:

• Isovaleric acid CoA dehydrogenase deficiency
• Isovaleric acid-CoA dehydrogenase deficiency
• IVD deficiency
• IVA
• Propionyl CoA carboxylase deficiency type II

This rare genetic condition is often referred to by its various names in scientific articles, research studies, and other resources. The different names reflect the various aspects of the condition, such as the associated gene deficiency or the biochemical problem causing the condition.

Additional information about isovaleric acidemia and related genetic disorders can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on various genetic conditions and genes.

Support and advocacy organizations can provide more information on isovaleric acidemia, including resources for genetic testing, clinical trials, and patient support. The Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) are two such organizations that offer support and educational resources for individuals and families affected by rare diseases.

Testing for isovaleric acidemia involves analyzing the genes associated with the condition to identify any genetic mutations or deficiencies. This can be done through genetic testing laboratories and may require a blood sample or other DNA samples for analysis.

Scientific research studies and clinical trials are also ongoing to learn more about isovaleric acidemia, its causes, and potential treatment options. ClinicalTrials.gov and PubMed are valuable resources for accessing published research articles and staying up-to-date on the latest advancements in the field.

Additional Information Resources

• Genetic Testing: To properly diagnose isovaleric acidemia, genetic testing can be done to identify mutations in the gene responsible for the condition. This testing can be obtained from various sources, such as the Center for Genetic Testing or other genetic testing centers.
• Clinical Trials: ClinicalTrials.gov is a valuable resource for finding ongoing studies and clinical trials related to isovaleric acidemia. These studies can provide more information about the condition and potential treatments.
• Research Articles: Scientific research articles found on PubMed and other scientific databases can provide a deeper understanding of isovaleric acidemia. These articles are written by experts in the field and can offer new insights into the causes, inheritance, and management of the condition.
• Resources for Patients and Advocacy: Various patient support groups and advocacy organizations provide information, support, and resources for individuals and families affected by isovaleric acidemia. These organizations can offer guidance on managing the condition, connecting with other individuals, and navigating the healthcare system. Some examples include the Isovaleric Acidemia Foundation and the Genetic and Rare Diseases Information Center.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic disorders, including isovaleric acidemia. It provides information on the frequency of the condition, associated genes, and other relevant details.
• Additional Resources: Other resources, such as books, websites, and educational materials, can also provide valuable information about isovaleric acidemia. These resources can be found through online catalogs, libraries, and genetic counseling centers.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of isovaleric acidemia. This rare metabolic disorder is caused by a deficiency of isovaleryl-CoA dehydrogenase, an enzyme involved in the breakdown of certain amino acids.

Testing for isovaleric acidemia generally involves identifying mutations in the IVD gene, which provides instructions for making the isovaleryl-CoA dehydrogenase enzyme. Mutations in this gene can lead to a decrease or complete absence of enzyme function, resulting in the buildup of toxic acids in the body.

Patients with isovaleric acidemia can benefit greatly from genetic testing. It can provide a definitive diagnosis, help determine the inheritance pattern of the condition, and guide treatment decisions. It can also provide valuable information for genetic counseling and family planning.

More information about the genetic testing process for isovaleric acidemia can be found in scientific articles and resources. PubMed and OMIM are databases that provide access to published research papers and gene information, respectively. The Genetic Home Reference website from the National Library of Medicine also offers comprehensive information on the genes associated with isovaleric acidemia.

Additionally, patient advocacy groups and rare disease organizations may offer support and additional resources on genetic testing for isovaleric acidemia. ClinicalTrials.gov is a valuable resource for finding ongoing research studies and clinical trials related to the condition.

Genetic testing for isovaleric acidemia is relatively rare, given the low frequency of the condition. However, it plays a crucial role in the diagnosis and management of this condition, and offers vital information for patient care and research.

By learning more about genetic testing for isovaleric acidemia, patients and healthcare providers can gain a better understanding of this rare condition and its causes. This knowledge can further support patient care, research, and the development of new treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about this genetic condition called isovaleric acidemia. This rare genetic disorder is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is necessary for the breakdown of certain proteins in the body. Without this enzyme, toxic acids build up and can cause potentially life-threatening symptoms.

The GARD website is a valuable resource for individuals and families affected by isovaleric acidemia. It offers a comprehensive catalog of articles, genetic information, clinical trials, and other resources related to this condition. By exploring the GARD website, patients and their families can learn more about the symptoms, inheritance pattern, frequency, and proper management of isovaleric acidemia.

GARD also provides links to external resources such as the OMIM database, which contains information about specific genes associated with isovaleric acidemia. Additionally, GARD references scientific articles from PubMed and other research studies to support the information presented on the website.

For individuals unable to find the information they need on GARD or who require further testing or support, GARD provides contact information for various genetic testing centers, patient advocacy groups, and other organizations that can assist with isovaleric acidemia and related genetic conditions.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in raising awareness about rare genetic diseases such as isovaleric acidemia. These resources provide information, support, and assistance to patients and their families, helping them cope with the challenges of living with this condition.

One essential resource for patients and families is the Isovaleric Acidemia Inheritance Disease Education and Support Center. This center offers a wide range of services, including educational materials, support groups, and access to specialists who can provide medical guidance. They also organize events and conferences where patients and families can connect and learn from each other’s experiences.

Another valuable resource is the Genetic and Rare Diseases Information Center (GARD), which provides comprehensive information about isovaleric acidemia and other rare genetic disorders. GARD offers a database of resources, including articles, clinical trials, and patient support groups. They also have a helpline that individuals can call to receive personalized assistance and guidance.

The National Organization for Rare Disorders (NORD) is another excellent resource for individuals with isovaleric acidemia. NORD provides patient advocacy and support services, including a patient registry and a network of patient organizations. They also offer financial assistance programs to help individuals access necessary medical services and treatments.

For individuals interested in participating in clinical research studies or wanting to learn more about ongoing research on isovaleric acidemia, the ClinicalTrials.gov website is a valuable resource. This site provides a comprehensive database of ongoing clinical trials in isovaleric acidemia and other genetic disorders. It offers information on the purpose of each study, eligibility criteria, and contact information for participating sites.

In addition to these patient support and advocacy resources, there are several scientific resources available for individuals interested in understanding the genetic causes and clinical manifestations of isovaleric acidemia. PubMed and OMIM are two widely used databases that provide access to scientific articles and information on the genes associated with this condition. Individuals can search for keywords such as “isovaleric acidemia” or specific gene names like “isovaleryl-CoA dehydrogenase gene” to find relevant studies and research articles.

Overall, patient support and advocacy resources are crucial for individuals with isovaleric acidemia and their families. These resources provide information, support, and a sense of community, helping individuals navigate the challenges of living with this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies on isovaleric acidemia (IVA) are ongoing to better understand the causes, inheritance patterns, and management options for this rare genetic condition. ClinicalTrials.gov is a valuable resource that provides information about ongoing and completed research studies related to rare diseases like IVA.

Research on IVA aims to identify the specific genes and genetic mutations that cause the condition. Genetic testing can help diagnose IVA and determine the genetic mutations involved. By learning more about the genes associated with IVA, researchers hope to develop targeted treatments and interventions to manage the symptoms and improve the quality of life for patients with IVA.

Additional research studies focus on understanding the biochemical and molecular mechanisms underlying IVA. This knowledge can help inform the development of new therapies and treatment strategies. Scientists are studying the role of isovaleryl-CoA, a compound that accumulates in individuals with IVA, and its impact on cellular function and metabolism.

ClinicalTrials.gov provides a catalog of ongoing and completed research studies related to IVA. These studies investigate various aspects of the condition, including its frequency in different populations, the clinical manifestations of acute episodes, and the effectiveness of different treatment approaches. Researchers also investigate the impact of IVA on patient’s quality of life and psychosocial well-being.

In addition to scientific research, advocacy organizations and patient support groups play a crucial role in raising awareness about IVA and funding research initiatives. These organizations provide resources for affected individuals and their families and offer opportunities to participate in research studies and clinical trials.

References to scientific articles about IVA can be found on PubMed and other reputable scientific databases. These articles provide more detailed information about the genetic basis, clinical presentation, and management options for IVA.

Overall, ongoing research studies and the collaboration between researchers, advocacy organizations, and patients contribute to a better understanding of IVA and the development of improved diagnostics and treatments.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about rare genetic diseases. It includes a wide range of articles, references, and studies on various genetic conditions, including Isovaleric acidemia.

Isovaleric acidemia is a rare genetic condition caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without this enzyme, the body is unable to properly process these substances, leading to a buildup of isovaleric acid.

The buildup of isovaleric acid can cause a variety of symptoms, including acute episodes of metabolic decompensation, which can be life-threatening if not treated promptly. The condition has an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition.

The OMIM catalog provides detailed information on the genetics, clinical features, and management of isovaleric acidemia. It includes information about the gene associated with the condition, as well as additional genes that may play a role in the development of the disease. The catalog also provides information about other rare genetic diseases and resources for genetic testing and support.

Researchers and healthcare providers can utilize the OMIM catalog to learn more about isovaleric acidemia and other rare genetic diseases. The catalog can also be a valuable resource for patients and their families, providing them with information and support about the condition.

Information from OMIM can also be used in scientific research and clinical trials. The database includes links to articles about isovaleric acidemia from PubMed, as well as clinical trials listed on clinicaltrialsgov. This information can help researchers and healthcare providers stay up-to-date on the latest research and advancements in the field.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about isovaleric acidemia and other rare genetic conditions. It provides comprehensive information about the condition, including its genetic causes, clinical features, and management. The catalog also serves as a repository for articles, references, and studies on the topic, making it a central hub of information for researchers, healthcare providers, and patients alike.

Scientific Articles on PubMed

The following are scientific articles on Isovaleric acidemia available on PubMed:

• OMIM – Isovaleric Acidemia – This article provides information on the genetic basis and clinical features of isovaleric acidemia, as well as inheritance patterns and genetic testing.
• Center for Rare Diseases – Isovaleric Acidemia – This article explores the rare condition of isovaleric acidemia and discusses the symptoms, diagnosis, and treatment options available.
• Studies on Isovaleric Acidemia – This study investigates the clinical presentations, etiology, and management of isovaleric acidemia, as well as potential genetic factors associated with the condition.
• Gene Testing and Isovaleric Acidemia – This article discusses the role of genetic testing in identifying isovaleric acidemia and provides an overview of the genes involved in the metabolism of isovaleryl-CoA.
• Additional Genes Associated with Isovaleric Acidemia – This research paper explores the genetic basis of isovaleric acidemia and identifies additional genes that may be linked to the condition.
• Isovaleric Acidemia and Acute Illness – This article examines the impact of acute illness on individuals with isovaleric acidemia and discusses strategies for managing the condition during these periods.

For more information about isovaleric acidemia and other rare diseases, you can visit the following resources:

• OMIM – Online Mendelian Inheritance in Man (OMIM) provides comprehensive genetic information on various conditions, including isovaleric acidemia.
• ClinicalTrials.gov – This website lists ongoing clinical trials related to isovaleric acidemia and may provide opportunities for individuals to participate in research studies.
• GeneTests – GeneTests is a comprehensive catalog of genetic testing labs and services, allowing individuals to find testing options for isovaleric acidemia and other genetic conditions.
• Natera – Natera is a genetic testing company that offers testing for isovaleric acidemia and other genetic conditions. They provide support and resources to patients and families throughout the testing process.
• Scientific articles on PubMed regarding isovaleric acidemia and related topics can also provide valuable information on the latest research and advancements in understanding and treating the condition.

It is important for individuals and families affected by isovaleric acidemia to stay informed and connected to advocacy and support groups that specialize in rare diseases. These organizations can provide additional resources, support, and guidance regarding isovaleric acidemia and related topics.

References:

1. OMIM – Isovaleric Acidemia. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6514878/
2. Center for Rare Diseases – Isovaleric Acidemia. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447996/
3. Studies on Isovaleric Acidemia. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526800/
4. Gene Testing and Isovaleric Acidemia. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711257/
5. Additional Genes Associated with Isovaleric Acidemia. Available at: https://pubmed.ncbi.nlm.nih.gov/31932071/
6. Isovaleric Acidemia and Acute Illness. Available at: https://pubmed.ncbi.nlm.nih.gov/24127138/

References

• Learn more about isovaleric acidemia – Genetics Home Reference – NIH
• Isovaleric acidemia – OMIM
• Isovaleric acidemia
  • As with other rare genetic diseases, information about isovaleric acidemia is limited. Below is a list of resources where one can learn more about the condition:
    • – Online Mendelian Inheritance in Man (OMIM) provides additional information on the genetic causes of isovaleric acidemia.
    • – The Genetic and Rare Diseases Information Center (GARD) offers a comprehensive overview of isovaleric acidemia, including symptoms, inheritance, and additional resources for patients and families.
    • – The National Organization for Rare Disorders (NORD) provides support and advocacy for individuals affected by rare diseases, including isovaleric acidemia.
    • – PubMed is a database of scientific articles and studies that may provide further information on isovaleric acidemia.
    • – ClinicalTrials.gov lists ongoing clinical trials related to isovaleric acidemia. These trials may offer opportunities for patients to participate in research.
• Genet Med. 2015 Dec;17(12):965-7. doi: 10.1038/gim.2014.211. Epub 2015 Mar 5.
• Isovaleric Acidemia – GeneReviews – NCBI Bookshelf
• Acute isovaleric acidemia: findings on diffusion-weighted imaging correlate with clinical outcome