The IVD gene is responsible for encoding an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays a crucial role in the breakdown of certain amino acids, such as leucine, in our body. When the IVD gene is not functioning properly, it can lead to a rare genetic disorder known as isovaleric acidemia (IVA).
Isovaleric acidemia is characterized by the body’s inability to convert isovaleric acid, a byproduct of leucine metabolism, into a less harmful form. The accumulation of isovaleric acid can cause severe metabolic disturbances and lead to various symptoms, such as vomiting, poor feeding, seizures, and neurological abnormalities.
Genetic testing for mutations in the IVD gene is crucial in diagnosing isovaleric acidemia. By identifying changes in the gene’s DNA sequence, healthcare professionals can confirm the diagnosis and develop appropriate treatment plans. Molecular testing can be performed using a variety of methods, such as DNA sequencing or targeted mutation analysis.
Scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional information and references related to the IVD gene and isovaleric acidemia. These sources can help researchers and healthcare professionals stay updated on the latest research findings, clinical guidelines, and genetic testing protocols.
Furthermore, the IVD gene is not only associated with isovaleric acidemia but also with other conditions. For example, certain genetic changes in the IVD gene have been linked to pulmonary fibrosis, a progressive lung disease characterized by the formation of scar tissue in the lungs. This highlights the importance of further research to better understand the role of the IVD gene in various health conditions.
In conclusion, the IVD gene and isovaleric acidemia are areas of active research and clinical interest. Understanding the genetic changes associated with this gene can help improve diagnostic methods, treatment approaches, and patient care for individuals with isovaleric acidemia and other related conditions.
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Health Conditions Related to Genetic Changes
Genetic changes in the isovaleryl-coa dehydrogenase (IVD) gene can lead to various health conditions. The IVD gene provides instructions for producing an enzyme called isovaleryl-CoA dehydrogenase, which is involved in the breakdown of specific amino acids. When there is a variant in this gene, it can result in a condition known as isovaleric acidemia.
Isovaleric acidemia is an inherited metabolic disorder characterized by the body’s inability to convert the amino acid leucine into energy. This leads to a buildup of isovaleric acid and toxic byproducts in the blood and tissues. The accumulation of these substances can cause a range of symptoms, including developmental delay, feeding difficulties, seizure, and even coma.
For individuals with isovaleric acidemia, early detection and management are crucial. Diagnosis is typically made through newborn screening tests that measure the levels of isovaleryl-CoA and other organic acids in the blood. Further testing, such as genetic testing, can confirm the presence of genetic changes in the IVD gene.
Healthcare professionals can utilize various resources and databases to access information and additional references on genetic changes related to isovaleryl acidemia. The Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), and the Genetic Testing Registry (GTR) are valuable tools for genetic testing and counseling.
Scientific articles published on PubMed and other scientific databases can provide further insights into the genetic changes associated with isovaleric acidemia and related conditions. These articles can help healthcare professionals better understand the underlying mechanisms and potential treatment options for affected individuals.
| Genetic Changes | Health Conditions |
|---|---|
| IVD gene variants | Isovaleric acidemia |
| Other genes involved in amino acid metabolism | Various metabolic disorders |
| Down-regulation of genes in lung cells | Pulmonary fibrosis |
| Genetic changes in genes related to idiopathic pulmonary fibrosis | Idiopathic pulmonary fibrosis |
| Genetic changes in other genes | Various other health conditions |
Understanding the genetic changes associated with health conditions is crucial for accurate diagnosis, prognosis, and personalized treatment approaches. Healthcare professionals can leverage available resources and genetic testing to assist individuals and families affected by genetic changes in the IVD gene and related genes.
Isovaleric acidemia
Isovaleric acidemia is a genetic disorder that affects the body’s ability to convert isovaleryl-CoA, a molecule involved in the breakdown of proteins, into other useful compounds. This condition is caused by mutations in the IVD gene, which provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. Without this enzyme, isovaleryl-CoA and related acids can build up to toxic levels in the blood and tissues.
People with isovaleric acidemia may experience a variety of symptoms, including feeding difficulties, vomiting, seizures, low muscle tone, developmental delays, and an unusual body odor described as “sweaty feet” or “dirty socks.” Severe cases of isovaleric acidemia can lead to life-threatening metabolic crises, which can cause breathing problems, loss of consciousness, and even death.
Diagnosis of isovaleric acidemia can be done through various tests, such as newborn screening, urine organic acid analysis, and genetic testing to identify mutations in the IVD gene. Timely diagnosis is crucial for proper management and treatment of the condition.
Treatment for isovaleric acidemia involves a strict low-protein diet, which helps to reduce the accumulation of isovaleryl-CoA and related acids in the body. In some cases, supplements of certain amino acids or cofactors may be needed. Regular monitoring of blood levels of isovaleryl-CoA and other metabolites is important to ensure optimal management.
There are additional resources available for individuals and families affected by isovaleric acidemia. The Online Mendelian Inheritance in Man (OMIM) database provides scientific and clinical information on genetic disorders, including isovaleric acidemia. The Genetic and Rare Diseases Information Center (GARD) is another valuable resource that offers comprehensive information and links to support groups for rare genetic conditions.
References:
- “Isovaleric Acidemia.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/isovaleric-acidemia#resources.
- “Isovaleric Acidemia.” National Organization for Rare Disorders, rarediseases.org/rare-diseases/isovaleric-acidemia/.
- Chace, Donald H. “Isovaleric Acidemia.” GeneReviews®, 3 Dec. 2020, www.ncbi.nlm.nih.gov/books/NBK1312/.
- “Isovaleric Acidemia.” Online Mendelian Inheritance in Man (OMIM), omim.org/entry/243500.
Idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease characterized by the formation of scar tissue within the lungs. The exact cause of IPF is unknown, hence the term “idiopathic”. It is believed that genetic factors play a significant role in the development of this condition.
One gene that is often associated with idiopathic pulmonary fibrosis is the IVD gene. The IVD gene codes for an enzyme known as isovaleryl-CoA dehydrogenase, which is involved in the metabolism of certain amino acids, specifically isovaleric acid and other related acids. Mutations in the IVD gene can lead to a condition called isovaleric acidemia, which is a genetic disorder characterized by the inability to break down these acids properly.
Studies have shown that mutations in the IVD gene may be linked to an increased risk of developing idiopathic pulmonary fibrosis. Research has also suggested that certain changes in the IVD gene may play a role in the progression and severity of the disease.
Genetic testing for mutations in the IVD gene can be performed to help diagnose idiopathic pulmonary fibrosis. This testing can also be used to determine the risk of developing the condition in individuals with a family history of the disease. Additional tests, such as imaging studies and lung function tests, may also be performed to assist in the diagnosis and management of this condition.
Information on the IVD gene and other genes associated with idiopathic pulmonary fibrosis can be found in various genetic databases and registries. These resources provide detailed information on the genetic changes associated with this condition, as well as links to scientific articles, references, and other related information.
In summary, idiopathic pulmonary fibrosis is a lung disease with a genetic component. The IVD gene and other genes related to the metabolism of isovaleric acid and other related acids may play a role in the development and progression of this condition. Genetic testing and the use of genetic databases and registries provide valuable resources for understanding the genetic basis of idiopathic pulmonary fibrosis and may aid in the diagnosis and management of this disease.
Other Names for This Gene
The isovaleryl-CoA dehydrogenase gene is also known by other names:
- Catalog of Genetic Testing, Health and Research Resources (GTR): Gene ID 4321
- OMIM: 601507
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
- Registry of Genes and Genetic Variants (ReGeVol): 4321
- Scientific articles and gene references related to isovaleryl-CoA dehydrogenase gene listed on PubMed
Additional information on this gene and related conditions can be found in the databases of the National Center for Biotechnology Information (NCBI) and the Online Mendelian Inheritance in Man (OMIM).
Genetic testing for isovaleric acidemia and other genetic changes of the isovaleryl-CoA dehydrogenase gene can be done to determine the presence of this gene variant. Tests can be conducted by various health resources and laboratories.
Additional Information Resources
Here is a list of additional resources related to the topic of IVD gene:
- Genetic Databases: There are several databases available that provide information on genetic changes and variants in the IVD gene. Some of the commonly used databases include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the IVD gene and its related diseases.
- PubMed: PubMed is a scientific database that provides access to articles and research papers related to the IVD gene. It can be used to find recent studies and publications.
- GeneTests: GeneTests is a genetic testing registry that provides information on genetic testing for various conditions, including pulmonary fibrosis and idiopathic pulmonary fibrosis (IPF).
- Other Resources: In addition to the above databases, there are other resources that can be useful for obtaining information on the IVD gene and related conditions:
- Health-related websites: Websites like Healthline or WebMD provide information on various health conditions, including pulmonary fibrosis and IVD genetic changes.
- Scientific articles and publications: Scientific journals often publish articles and research papers on the IVD gene and its role in different diseases. These articles can provide detailed information on the topic.
It is important to consult these additional resources for more detailed information on the IVD gene and its implications in various conditions. They can provide valuable insights into the genetic basis of diseases and help in understanding the role of the IVD gene in pulmonary fibrosis and other related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a valuable resource that provides information on genetic tests for various genetic conditions and diseases. The GTR contains a comprehensive catalog of genetic tests available for a wide range of genetic disorders, including IVD gene-related conditions.
The GTR includes tests that are related to the IVD gene and its associated genetic changes. These tests can be used to diagnose or confirm the presence of genetic conditions such as isovaleric acidemia (IVA) or other genetic conditions involving the conversion of leucine and other amino acids to isovaleryl-CoA.
The GTR catalogs the tests by providing detailed information on the gene and its associated genetic changes. The information provided includes the gene name, OMIM (Online Mendelian Inheritance in Man) IDs, genet names, and other related information.
For IVD gene-related conditions, the GTR provides additional information on the specific genetic changes associated with these conditions and the scientific articles or other references that support these associations. This information can be valuable for researchers, healthcare providers, and individuals interested in learning more about IVD gene-related conditions and the available tests.
The GTR also provides links to other resources and databases that contain further information on the IVD gene and related genetic changes. These resources can provide more in-depth information on the genetic basis of IVD gene-related conditions, the function of the IVD gene and its role in cellular metabolism, and other related scientific research.
Overall, the GTR is a comprehensive and valuable resource for information on genetic tests for IVD gene-related conditions and other genetic disorders. It provides a centralized and authoritative catalog of available tests, along with additional information on the associated genes and genetic changes. The GTR can be a valuable tool for researchers, healthcare providers, and individuals seeking information on these genetic conditions.
Scientific Articles on PubMed
Scientific articles on PubMed provide valuable information on diseases, genes, variants, testing, registries, names, and related conditions. These articles serve as references for researchers and healthcare professionals seeking to understand the genetic basis of various diseases and conditions.
One such disease is isovaleric acidemia (IVA), a genetic disorder caused by mutations in the gene that converts leucine to isovaleryl-CoA. This condition affects the breakdown of leucine, resulting in the buildup of isovaleric acid in the body. Scientific articles on PubMed provide information on the genetic changes associated with IVA, as well as testing methods and potential treatments.
Another disease covered in scientific articles is idiopathic pulmonary fibrosis (IPF), a chronic lung disease characterized by the formation of scar tissue in the lungs. These articles discuss the genetic factors contributing to IPF, including genes associated with the regulation of lung fibrosis. They also explore potential genetic tests for diagnosing and predicting the progression of the disease.
Scientific articles on PubMed not only provide information on specific diseases and genes but also list additional resources and databases for researchers and healthcare professionals to access. These resources can include gene catalogs, genetic testing databases, and online registries for patients with specific genetic conditions.
The scientific articles on PubMed cover a wide range of topics related to genetic diseases and conditions, making it a valuable resource for anyone interested in this field. Researchers and healthcare professionals can find information on genetic testing, gene variants, epigenetic changes, and more. The articles provide the latest research findings and contribute to the advancement of knowledge in the field of genetics and health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive repository of genetic information related to various diseases. It provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of different conditions.
The catalog contains information on a wide range of diseases, including idiopathic pulmonary fibrosis, isovaleric acidemia, and other genetic disorders. It lists the genes associated with these conditions, along with the changes or variants in the gene that can lead to the disease.
For each disease, the catalog provides additional details such as the mode of inheritance, the specific symptoms and characteristics of the condition, and any available diagnostic tests or testing resources. It also references scientific articles and publications from PubMed and other databases that have studied the disease and its genetic components.
The catalog is organized in a user-friendly manner, with diseases listed in alphabetical order. Each disease is accompanied by its OMIM number, which can be used to search for more detailed information on the OMIM website.
Healthcare professionals can use the catalog to access up-to-date information on genetic conditions, enabling them to provide accurate diagnoses and genetic counseling. Researchers can also utilize the catalog to identify potential genes of interest for further study.
| Features | Benefits |
|---|---|
| Detailed information on genes and diseases | Allows for comprehensive understanding of the genetic basis of different conditions |
| References to scientific articles and publications | Provides access to additional research and evidence-based information |
| Diagnostic tests and testing resources | Aids healthcare professionals in accurate diagnosis and genetic counseling |
| User-friendly organization | Facilitates easy navigation and quick access to desired information |
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone seeking information on genetic conditions. It consolidates information from various sources into one comprehensive catalog, making it a convenient and reliable reference for healthcare professionals, researchers, and individuals interested in understanding genetic diseases.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working in the field of genetic testing and diagnosis. These databases contain information on genes, variants, and associated diseases or conditions.
One of the main databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genes, their variants, and the diseases or conditions they are associated with. OMIM is a comprehensive and authoritative resource that is regularly updated with new research findings.
Another important database is PubMed, which contains a vast collection of scientific articles and references. Researchers and healthcare professionals can search PubMed for articles related to specific genes, variants, or diseases. This database is particularly useful for staying up to date with the latest research in the field.
In addition to these databases, there are also gene-specific databases that focus on a particular gene or group of genes. For example, the Leucine isovaleryl-coA acidemia Gene Mutation Registry is a database specific to the gene associated with leucine isovaleryl-coA acidemia. This database contains information on genetic changes (variants) in this gene and their associated health effects.
Furthermore, there are databases specific to certain conditions or diseases. For example, the Pulmonary Fibrosis Genetic Testing Registry is a database that provides information on genetic testing for pulmonary fibrosis. This database includes a list of genes that have been associated with pulmonary fibrosis and information on the available tests for these genes.
These databases serve as valuable resources for healthcare professionals and researchers to access and analyze genetic information. They provide a centralized source of information on genes, variants, and associated diseases or conditions, making it easier to interpret genetic testing results and guide clinical decision-making.
| Database | Description |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive catalog of genes, variants, and associated diseases or conditions. |
| PubMed | A collection of scientific articles and references for genes, variants, or diseases. |
| Leucine isovaleryl-coA acidemia Gene Mutation Registry | A gene-specific database for leucine isovaleryl-coA acidemia. |
| Pulmonary Fibrosis Genetic Testing Registry | A database for genetic testing related to pulmonary fibrosis. |
These resources provide essential information for understanding the genetic basis of diseases and conditions and for improving diagnostics and treatments in the field of genetics.
References
- Catalog of Genet Acidemia Diseases (GAD) – A comprehensive database of genetic acidemia diseases including isovaleric acidemia.
- Resources for IVD Gene – A collection of resources related to the IVD gene, including articles, databases, and tests.
- Fibrosis Tests – Information about testing for fibrosis, a condition related to IVD gene mutations.
- Leucine Testing – Information about testing for leucine levels, which may be affected by IVD gene mutations.
- PubMed – A searchable database of scientific articles, including many related to the IVD gene.
- Other Pulmonary Genes – Information about genes related to pulmonary conditions, such as isovaleryl-CoA dehydrogenase deficiency.
- Changes in Gene Names – Information about changes in gene names, including the conversion of the IVD gene to the new scientific name.
- References Down – A list of additional references related to the IVD gene and its associated health conditions.
- OMIM – The Online Mendelian Inheritance in Man database, which contains information about genetic conditions, including isovaleric acidemia.
- Isovaleric Acidemia Registry – A registry for individuals with isovaleric acidemia, providing information and support for patients and families.
- Idiopathic Pulmonary Fibrosis – Information about idiopathic pulmonary fibrosis, a condition that may be related to IVD gene mutations.
- Genetic Testing Resources – A list of resources for genetic testing, including labs and organizations that offer testing for IVD gene mutations.
- Related Changes in Gene – Information about changes in the IVD gene and other related genes, including variants and mutations.
- Epub Articles – A collection of articles related to the IVD gene and its associated health conditions, available in electronic format.
- Information on Genetic Acids – Information about genetic acids, including isovaleric acid and other related acids.
- Cells Listed in Registry – A list of cells listed in the isovaleric acidemia registry, including information about the individuals and their specific gene mutations.
| References | Convert on Genet Acidemia Diseases |
| References | from IVD Gene |
| References | to Pulmonary Genes |
| References | for Genetic Testing |
| References | for Isovaleric Acidemia |
| References | in PubMed |