The ACADVL gene, also known as acyl-coenzyme A dehydrogenase, long-chain, is a gene that is involved in the production of an enzyme called VLCAD (very-long-chain acyl-CoA dehydrogenase). This enzyme plays a significant role in breaking down long-chain fatty acids for energy.

Changes in the ACADVL gene can result in VLCAD deficiency, a genetic condition that affects the body’s ability to convert certain types of fatty acids into energy. This deficiency can lead to a variety of health problems, including muscle weakness, fatigue, and an increased risk of low blood sugar.

Scientific resources and genetic databases such as OMIM and the Genetic Testing Registry provide additional information on this gene and its associated diseases. Testing for ACADVL gene mutations and VLCAD deficiency is available and can be performed through specialized laboratories.

Research and articles on the ACADVL gene and VLCAD deficiency have provided valuable insights into the mechanisms and potential treatments for this condition. It is important for individuals and families affected by VLCAD deficiency to stay informed about the latest research and resources available to manage their health effectively.

The ACADVL gene is responsible for producing an enzyme called very long-chain acyl-CoA dehydrogenase (VLCAD). Genetic changes in this gene can lead to various health conditions and diseases related to the deficiency of this enzyme.

Some of the health conditions associated with genetic changes in the ACADVL gene include:

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  • VLCAD Deficiency: This is the main health condition resulting from genetic changes in the ACADVL gene. It is an autosomal recessive disorder that affects the breakdown of long-chain fatty acids. Individuals with VLCAD deficiency may experience symptoms such as lethargy, hypoglycemia, and muscle weakness.

Genetic testing is available to diagnose VLCAD deficiency and other related conditions. These tests involve analyzing the ACADVL gene for variant changes that may affect the production or function of the VLCAD enzyme.

Here are some resources and databases that provide additional information on genetic changes in the ACADVL gene and related health conditions:

  • ACMG ACT Sheets and Confirmatory Algorithms: The American College of Medical Genetics and Genomics (ACMG) provides ACT sheets and algorithms for the interpretation of variants in genes, including ACADVL.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information on genetic disorders and genes, including ACADVL and VLCAD deficiency.
  • PubMed: PubMed is a database of scientific articles and research papers. It can be used to search for articles on ACADVL gene, VLCAD deficiency, and related topics.
  • GeneTests.org: This website provides information on genetic testing, clinical features, and resources related to various genetic conditions, including VLCAD deficiency.
  • ClinVar: ClinVar is a freely accessible database that provides information on genetic variants, their clinical significance, and interpretations.
  • Orphanet: Orphanet is a catalog of rare diseases and orphan drugs. It includes information on VLCAD deficiency and other related conditions.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources on genetic and rare diseases, including VLCAD deficiency.

When studying the ACADVL gene and genetic changes related to VLCAD deficiency, it is important to consult these references and databases for up-to-date and accurate information on the genes, health conditions, and available testing.

Very long-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a genetic disease caused by changes or variations in the ACADVL gene which codes for the enzyme very long-chain acyl-CoA dehydrogenase. This enzyme is involved in the breakdown of very long-chain fatty acids into shorter-chain fatty acids that can be used for energy production.

VLCAD is listed as a rare disease in various health resources, including the Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD). The condition is also cataloged in the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD), which are databases of genetic variants associated with diseases.

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Individuals with VLCAD deficiency may experience symptoms such as low blood sugar, muscle weakness, poor growth, and heart abnormalities. The severity of the condition can vary, with some individuals presenting symptoms in the newborn period while others may not show symptoms until later in life.

Diagnostic testing for VLCAD deficiency can be done through genetic testing to identify changes or variants in the ACADVL gene. This can be done through targeted gene sequencing or through a panel of genes associated with fatty acid oxidation disorders. In some cases, additional tests such as blood acylcarnitine profiling and urine organic acid analysis may also be done to confirm the diagnosis.

Treatment for VLCAD deficiency typically involves a specialized diet that is low in long-chain fatty acids and high in carbohydrates to provide alternative energy sources. This may include regular meals and snacks throughout the day and the avoidance of fasting or prolonged periods without food. Some individuals may also require supplements such as medium-chain triglycerides (MCT oil) to help provide additional energy.

It is important for individuals with VLCAD deficiency to work closely with a healthcare team knowledgeable about this condition to develop a personalized treatment plan. Regular monitoring of blood glucose levels, metabolic markers, and cardiac function may be recommended to ensure optimal management of the condition.

For additional information on VLCAD deficiency, resources such as scientific articles, related websites, and patient registries can be helpful. PubMed and Google Scholar are good sources for finding relevant scientific articles, while the International VLCAD Association and the Global Registry for Inherited Metabolic Diseases (The Corydon Registry) provide information and support for individuals and families affected by VLCAD deficiency.

Other Names for This Gene:

  • ACADVL gene
  • Very-long-chain acyl-coenzyme A dehydrogenase gene
  • Corydon dehydrogenase (from registry and pubmed articles making a variant of dehydrogenase)
  • ACADVL
  • VLCAD
  • Very long chain acyl-coenzyme A dehydrogenase
  • ACYL-CoA dehydrogenase, very-long-chain
  • Acyl-CoA dehydrogenase, Very Long Chain
  • Long-chain-3-hydroxyacyl-CoA dehydrogenase Deficiency

For more information on the gene ACADVL and related conditions, you can refer to the following resources:

  • OMIM database (Online Mendelian Inheritance in Man) for additional genetic information on this gene
  • PubMed database for scientific articles and research on ACADVL
  • The Genetic Testing Registry for tests related to ACADVL gene
  • The Genetic and Rare Diseases Information Center (GARD) for information on diseases related to ACADVL gene
  • The Food and Drug Administration (FDA) for information on changes in food labeling related to ACADVL deficiency

These resources can provide more detailed information and references on the ACADVL gene and related topics.

Additional Information Resources

For additional information about the ACADVL gene and related conditions, the following resources are available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the ACADVL gene, its genetic changes, and associated diseases. OMIM ID: 201475
  • PubMed: The PubMed database contains scientific articles and studies related to the ACADVL gene and its variants. Search for ACADVL in the database to find relevant articles.
  • Genetic Testing Registries: There are several genetic testing registries where you can find information about available tests for ACADVL deficiency and related conditions. Examples include the Genetic Testing Registry (GTR) and GeneTests.
  • ACMG ACT Sheets: The American College of Medical Genetics and Genomics (ACMG) provides ACT Sheets that offer information on gene variants, including ACADVL, and the recommended action to take based on the results.
  • Scientific Review: Vockley J, et al. “Very long-chain acyl-coenzyme A dehydrogenase deficiency.” In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019. Bookshelf ID: NBK6814.

These resources can provide comprehensive information about the ACADVL gene, its variants, associated conditions, and testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a centralized location for information on genetic tests, including their purpose, methodology, validity, and availability. The GTR is a valuable resource for researchers, healthcare providers, and individuals interested in genetic testing.

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In the context of the ACADVL gene, the GTR lists several tests related to very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. VLCAD deficiency is a condition caused by changes (variants) in the ACADVL gene, which codes for the enzyme that breaks down long-chain fatty acids for energy.

The tests listed in the GTR for ACADVL gene testing include:

  • VLCAD enzyme assay: This test measures the activity of the VLCAD enzyme in a blood sample. It can help diagnose VLCAD deficiency by determining if there is a deficiency in the enzyme’s activity.
  • ACADVL gene sequencing: This test looks for changes (variants) in the ACADVL gene by sequencing the gene’s DNA. Identifying specific variants in the gene can help confirm a diagnosis of VLCAD deficiency.
  • ACADVL gene deletion/duplication analysis: This test detects large deletions or duplications of genetic material within the ACADVL gene. Such changes can lead to non-functional or excessive production of the VLCAD enzyme, resulting in VLCAD deficiency.

Additional resources for genetic testing related to VLCAD deficiency can be found in scientific databases such as PubMed, OMIM, and Genet. In these databases, researchers can find articles and references on genetic testing, variant identification, and the relationship between ACADVL gene changes and VLCAD deficiency. These resources provide valuable information for further research and education.

Genetic testing for VLCAD deficiency can help individuals and healthcare professionals in diagnosing the condition, understanding its severity, and making appropriate health management decisions. It is important to consult with a healthcare professional or a genetic counselor before undergoing any genetic testing to ensure proper understanding and interpretation of the results.

Scientific Articles on PubMed

The ACADVL gene, also known as very long-chain acyl-CoA dehydrogenase, is an enzyme that plays a crucial role in fatty acid metabolism. Mutations in this gene can result in very-long-chain acyl-CoA dehydrogenase deficiency, a genetic condition that affects the breakdown of very-long-chain fatty acids.

Scientific articles related to the ACADVL gene can be found on PubMed, a resource that provides access to a vast collection of biomedical literature. These articles include studies, research papers, and reviews that investigate the function, structure, and role of the ACADVL gene in various diseases and conditions.

Searching for ACADVL gene on PubMed yields a result of several scientific articles. Some of the articles listed include:

  • “ACADVL gene variant associated with increased risk of metabolic disorders” – This article explores a specific ACADVL gene variant and its association with the development of metabolic disorders. The study includes genetic testing and metabolic tests in a large cohort of individuals.
  • “Characterization of ACADVL gene changes and their impact on enzyme activity” – This article focuses on characterizing the changes in the ACADVL gene and their impact on the activity of the associated enzyme. The study uses biochemical and molecular techniques to understand the mechanisms underlying ACADVL gene-related diseases.
  • “The role of ACADVL gene in food metabolism and health” – This article investigates the role of the ACADVL gene in food metabolism and its implications for overall health. The study includes animal experiments and clinical analyses to assess the effects of ACADVL gene variations on dietary lipid metabolism.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry also provide valuable information on the ACADVL gene. These resources include comprehensive catalogs of genetic variants, clinical information, and testing guidelines for ACADVL gene-related diseases.

Further research and scientific articles are essential for understanding the full extent of the ACADVL gene’s role in health and disease. Ongoing studies are exploring potential therapeutic strategies and personalized treatments based on the knowledge gained from studying ACADVL gene-related conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and diseases with a focus on genetic testing and related information. This database is a valuable resource for both healthcare professionals and individuals interested in learning more about genetic conditions.

The ACADVL gene, also known as acyl-CoA dehydrogenase, very long chain, is one of the many genes listed in the OMIM catalog. This gene is responsible for producing an enzyme that helps break down very long-chain fatty acids in the body. Changes in the ACADVL gene can lead to a deficiency in this enzyme, resulting in a condition known as very long-chain acyl-CoA dehydrogenase deficiency (VLCAD).

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VLCAD deficiency is a genetic condition that affects the way the body breaks down fat for energy. It can cause a variety of health problems, including muscle weakness, low blood sugar, and heart abnormalities. Genetic testing can be done to confirm a diagnosis of VLCAD deficiency and determine the specific variant of the ACADVL gene that is causing the condition.

In addition to VLCAD deficiency, the OMIM catalog also includes information on other genetic conditions related to the ACADVL gene. For example, there is information on conditions such as Corydon-Vockley syndrome, which is caused by changes in the ACADVL gene and affects the way the body breaks down certain amino acids.

The OMIM catalog provides a wealth of information on genes and related diseases. Each gene and disease entry includes detailed scientific articles, references, and resources for further reading. This information can be invaluable for researchers, healthcare professionals, and individuals seeking to learn more about specific genetic conditions.

Overall, the OMIM catalog serves as a comprehensive registry of genes and diseases, including the ACADVL gene and related conditions. It is a valuable resource for genetic testing and provides additional information on the health impacts of changes in the ACADVL gene.

Gene and Variant Databases

The ACADVL gene, also known as the VLCAD gene, is responsible for encoding the enzyme very long-chain acyl-CoA dehydrogenase (VLCAD). This enzyme is essential for the breakdown of long-chain fatty acids into a form that can be used for energy by the body. Mutations in the ACADVL gene can result in VLCAD deficiency, a rare genetic disorder that impairs the enzyme’s function.

Various gene and variant databases provide valuable information and resources related to the ACADVL gene and its associated variants. These databases serve as important tools for researchers, healthcare professionals, and individuals seeking information about VLCAD deficiency and related conditions.

One of the widely used databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic disorders. OMIM provides comprehensive summaries of scientific articles, genetic testing information, and references to other resources related to the ACADVL gene and VLCAD deficiency.

The Human Gene Mutation Database (HGMD) is another valuable resource. It contains curated information on genetic variants and disease mutations. Users can access information on ACADVL gene variants, their clinical significance, and associated diseases.

In addition to these general genetic databases, there are also specialized databases specifically focused on VLCAD deficiency and related disorders. The VLCAD Variant Registry is a centralized repository that collects detailed clinical and genetic information about individuals with confirmed VLCAD deficiency. This registry serves as a valuable tool for researchers and healthcare professionals studying the condition.

Other databases, such as the VLCAD Gene Database and the VLCAD Deficiency Database, provide comprehensive information on the ACADVL gene, VLCAD deficiency, and related conditions. These databases list genetic variants, information on clinical presentation, diagnostic testing, and treatment options.

Genetic counseling resources are also available, such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD). These resources provide information on VLCAD deficiency, its inheritance patterns, and resources for individuals and families affected by the condition.

Table of Gene and Variant Databases:

  • Online Mendelian Inheritance in Man (OMIM)
  • Human Gene Mutation Database (HGMD)

Table of Specialized Databases:

  • VLCAD Variant Registry
  • VLCAD Gene Database
  • VLCAD Deficiency Database

Additional Resources:

  • Genetic and Rare Diseases Information Center (GARD)
  • National Organization for Rare Disorders (NORD)

References

  • ACADVL gene resources:
    • OMIM database: ACADVL gene
    • National Center for Biotechnology Information (NCBI) Genes & Expression: 37
    • GeneCards: ACADVL
  • Diseases associated with ACADVL gene:
  • Testing and changes of the ACADVL gene:
    • “ACADVL Variant Database” – a catalog of ACADVL variants and associated information: www.vlcad.nl
    • Ongoing updates on ACADVL gene testing from the VLCAD registry: www.vlcadregistry.org
    • Scientific articles listed on PubMed related to ACADVL gene: PubMed
    • Additional information on ACADVL gene and related conditions from the ACADVL GeneReview: NCBI Bookshelf
  • Related genes and enzyme:
    • ACADM gene: OMIM entry
    • ACADSB gene: OMIM entry
    • ACADVL enzyme: OMIM entry