The HADH gene, also known as 3-hydroxyacyl-coa dehydrogenase, is responsible for coding the enzyme that plays a crucial role in the breakdown of fatty acids in our cells. This gene is associated with various disorders, such as hypoglycemia, hyperinsulinism, and other metabolic conditions.

Researchers have found that mutations in the HADH gene can lead to a deficiency in the activity of this enzyme, resulting in the accumulation of harmful byproducts in the body. These byproducts can affect normal physiological processes, leading to the development of diseases.

Through databases such as OMIM (Online Mendelian Inheritance in Man), researchers and health professionals can access important information and references related to this gene and its associated disorders. The OMIM database provides additional resources, including scientific articles, genetic testing information, and registry of genetic conditions.

Furthermore, researchers have also identified other genes and enzymes that are related to the HADH gene and its activity. These genes and enzymes are involved in the breakdown of fatty acids and play a vital role in maintaining normal metabolic processes in various tissues and organs.

Health Conditions Related to Genetic Changes

Genetic changes in the HADH gene can lead to various health conditions. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-coa dehydrogenase. This enzyme is involved in breaking down fatty acids to produce energy. Genetic changes in this gene can affect the activity of the enzyme, leading to abnormal metabolism of fats in tissues.

One health condition related to genetic changes in the HADH gene is hyperinsulinism. Hyperinsulinism is a condition characterized by low blood sugar levels (hypoglycemia) caused by excessive insulin production. Mutations in the HADH gene can disrupt the normal regulation of insulin secretion, leading to hyperinsulinism.

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Another health condition related to genetic changes in the HADH gene is congenital 3-hydroxyacyl-coa dehydrogenase deficiency. This is a rare metabolic disorder characterized by recurrent episodes of hypoglycemia. It is caused by mutations in the HADH gene that result in reduced or absent activity of the 3-hydroxyacyl-coa dehydrogenase enzyme.

To learn more about these health conditions and other disorders related to genetic changes in the HADH gene, it is important to refer to scientific resources and databases. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific articles provide valuable information on genetic changes, testing methods, and health outcomes associated with the HADH gene.

Additionally, genetic testing laboratories and registries may have further information on these conditions, including testing options, references, and resources for individuals and families affected by genetic changes in the HADH gene.

In summary, genetic changes in the HADH gene can result in various health conditions related to the abnormal activity of the 3-hydroxyacyl-coa dehydrogenase enzyme. Understanding these genetic changes and their effects is important for diagnosis, management, and treatment of individuals with these conditions.

3-hydroxyacyl-CoA dehydrogenase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency is a genetic condition caused by changes in the HADH gene. This gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase, which is involved in breaking down fats in the body.

Individuals with 3-hydroxyacyl-CoA dehydrogenase deficiency have a variant form of the enzyme that has reduced activity. This leads to problems with the breakdown of certain fats, particularly those derived from the diet. As a result, affected individuals may experience episodes of low blood sugar (hypoglycemia) and an increased level of certain acids in the blood (acidosis).

Researchers have identified several genetic changes in the HADH gene that can cause 3-hydroxyacyl-CoA dehydrogenase deficiency. These changes impair the enzyme’s activity, leading to the signs and symptoms of the condition.

Testing for 3-hydroxyacyl-CoA dehydrogenase deficiency can be done through various resources, such as genetic testing and enzyme activity tests. These tests can help identify the specific variant of the HADH gene and determine the severity of the enzyme deficiency.

In addition to these resources, other important information on 3-hydroxyacyl-CoA dehydrogenase deficiency can be found in scientific articles, health databases, and registries. These sources provide information on related conditions, common symptoms, and available treatments.

Resources for 3-hydroxyacyl-CoA dehydrogenase deficiency:
Genetic testing Enzyme activity tests Scientific articles Health databases Registries

Genes related to 3-hydroxyacyl-CoA dehydrogenase deficiency and other conditions can also be found in genetic catalog databases. These databases list genes that have been associated with various genetic disorders and provide additional information on their functions and variants.

Researchers and scientists continue to study 3-hydroxyacyl-CoA dehydrogenase deficiency and its impact on health. Ongoing research aims to better understand the underlying mechanisms of the condition and develop new treatments and interventions.

References:

[1] Clayton PT. Disorders of fatty acid oxidation. In: Fernandes J, Saudubray JM, Berghe G, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Berlin, Germany: Springer-Verlag; 2012:309-314.

[2] Online Mendelian Inheritance in Man (OMIM). HADH gene. Available at: https://www.omim.org/gene/601609. Accessed March 10, 2022.

[3] PubMed. Search results for “3-hydroxyacyl-CoA dehydrogenase deficiency”. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=3-hydroxyacyl-CoA+dehydrogenase+deficiency. Accessed March 10, 2022.

Congenital hyperinsulinism

Congenital hyperinsulinism is a genetic disorder characterized by the excessive production of insulin by beta cells in the pancreas. This leads to persistent hypoglycemia (low blood sugar) in affected individuals.

Researchers have identified several genes associated with congenital hyperinsulinism, including the HADH gene. Mutations in this gene can result in a deficiency of the 3-hydroxyacyl-coa dehydrogenase enzyme, which plays an important role in breaking down fats from food. Changes in the activity of this enzyme can disrupt normal glucose metabolism and lead to hypoglycemia.

The HADH gene is just one of the many genes involved in the regulation of insulin secretion. Other genes listed in scientific databases such as PubMed are also related to this condition.

Genetic testing can be performed to identify mutations in the HADH gene and other related genes. This testing can help confirm a diagnosis of congenital hyperinsulinism and provide important information for the management of the condition.

For researchers and healthcare professionals, resources such as the Congenital Hyperinsulinism International Registry and databases of genetic variants can provide additional information on this condition and related genetic changes.

It is important to note that congenital hyperinsulinism is not the same as other conditions or disorders that can cause hypoglycemia.

Other disorders

In addition to HADH gene, mutations in other genes coding enzymes involved in fatty acid metabolism have been identified to cause various disorders. Some of these disorders include:

• Congenital Hyperinsulinism: This is a genetic condition characterized by excessive insulin production, leading to low blood sugar levels (hypoglycemia). Mutations in genes such as ABCC8, KCNJ11, GLUD1, GCK, and HADH have been associated with this condition.
• 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: This is a disorder that affects the breakdown of fats in the body. It is caused by mutations in the HADH gene, which result in reduced activity of the 3-hydroxyacyl-CoA dehydrogenase enzyme. Symptoms of this condition may include hypoglycemia, lethargy, and metabolic acidosis.
• Other genetic disorders related to fatty acid metabolism: There are additional conditions caused by mutations in genes involved in fatty acid metabolism. These include medium-chain acyl-CoA dehydrogenase deficiency (MCAD), very long-chain acyl-CoA dehydrogenase deficiency (VLCAD), and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD), among others.

For more information on these disorders, researchers can refer to scientific articles, genetic testing databases, and resources such as OMIM (Online Mendelian Inheritance in Man). Additional references and a registry of affected individuals may also be available for further study.

Other Names for This Gene

The HADH gene is also known by other names:

• 3-Hydroxyacyl-CoA Dehydrogenase
• HAD
• Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase

These names are used interchangeably and can be found in various databases and scientific articles.

Additional Information and Related Genes

The HADH gene is important for the normal function of enzymes that break down fats in the body. Changes in this gene can lead to disorders related to the activity of the HADH enzyme.

One such disorder is hyperinsulinism, a condition where the body produces too much insulin, which can result in low blood sugar levels. The HADH gene is also listed in the OMIM database as a genetic variant associated with congenital hyperinsulinism.

Researchers and health professionals can use genetic testing to identify changes in the HADH gene and determine the underlying cause of these conditions.

Resources for More Information

If you would like to learn more about the HADH gene and related conditions, the following resources may be helpful:

1. The OMIM database provides detailed information on the HADH gene and related disorders. You can find references to scientific articles, genetic testing resources, and additional information on this gene.
2. The PubMed database is another useful resource for finding research articles on the HADH gene and its functions.
3. The Genetic and Rare Diseases Information Center (GARD) offers information on various genetic disorders, including those related to the HADH gene.
4. The Hypoglycemia Support Foundation provides resources and support for individuals with hypoglycemia and related metabolic disorders.

These resources can provide more information on the HADH gene, genetic testing, and the management of conditions associated with HADH gene variants.

Additional Information Resources

For more information about the HADH gene and related genes, researchers, and testing for congenital hyperinsulinism, the following resources can be valuable:

• References and Articles: Scientific articles and publications that discuss the HADH gene, genetic testing, and related information can be found on PubMed and other scientific databases.
• Genetic Databases: Databases like OMIM (Online Mendelian Inheritance in Man) catalog various genetic disorders and provide detailed information on genes and their associated conditions.
• HADH Gene Registry: This is a registry specifically dedicated to collecting information on individuals with changes in the HADH gene, providing a platform for researchers and healthcare providers to collaborate.
• Testing for HADH Gene Changes: Genetic testing labs offer specific tests to identify changes in the HADH gene that may be responsible for health conditions. Consult healthcare providers for further information on available genetic testing options.
• Fats and Enzymes: Learn more about the role of the HADH enzyme (3-hydroxyacyl-coa dehydrogenase) in processing fats and its importance for normal health.
• Other Genetic Disorders: Explore related genetic disorders and conditions that may be associated with HADH deficiency or hyperinsulinism.
• Clayton’s Hypoglycemia: HADH gene changes are related to Clayton’s hypoglycemia, a specific subtype of congenital hyperinsulinism. Find out more about this condition and its symptoms.

Tests Listed in the Genetic Testing Registry

Genetic testing for the HADH gene is available through the Genetic Testing Registry. The HADH gene encodes the enzyme 3-hydroxyacyl-coa dehydrogenase, which is important for the breakdown of fats in tissues. Mutations in this gene can lead to HADH deficiency, a genetic condition associated with hypoglycemia and hyperinsulinism.

Testing for the HADH gene can provide important information for individuals with symptoms related to HADH deficiency, as well as for researchers studying this gene and its associated conditions. The Genetic Testing Registry provides a catalog of genetic tests available for HADH and other genes.

Tests listed in the Genetic Testing Registry include both clinical tests and research tests. Clinical tests are designed for diagnostic purposes and are available to individuals who suspect they may have a genetic condition. Research tests, on the other hand, are primarily used by scientists and researchers for studying genetic variations and their effects on health.

Information about tests listed in the Genetic Testing Registry can include the names of the tests, the changes in the HADH gene that are detected by the tests, and additional resources such as references to scientific articles and databases like OMIM, PubMed, and others. These resources can provide further information about the gene, related conditions, and the activity of the enzyme.

Researchers and healthcare professionals can also use the Genetic Testing Registry to find tests for other genes related to HADH deficiency and its associated conditions. This can be helpful for understanding the underlying genetic causes of these conditions and potentially developing targeted treatments.

In summary, the Genetic Testing Registry provides a valuable resource for individuals seeking genetic testing for the HADH gene and related conditions. It offers a catalog of tests that can provide important information about the activity of the enzyme, the presence of genetic variants, and the potential impact on health. Researchers and healthcare professionals can also utilize this database for further research and understanding of HADH deficiency and other related conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to genes and genetic disorders. In particular, it contains a wealth of information on the HADH gene and its associated conditions. The HADH gene is responsible for encoding the enzyme 3-hydroxyacyl-CoA dehydrogenase, which plays an important role in the breakdown of fats in the body.

Individuals with congenital deficiency of this enzyme may experience a range of conditions, including hypoglycemia and hyperinsulinism, among others. Researchers and healthcare professionals can find articles on these topics and more by searching the PubMed database.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic information related to various diseases. It serves as a valuable resource for researchers, scientists, and healthcare professionals in understanding the genetic basis of diseases and conducting further studies.

OMIM provides a vast collection of genetic resources, including genes, enzymes, and other related information. It lists genetic conditions, their associated genes, and the variant changes that occur in these genes. The catalog also includes important scientific articles and references from PubMed, providing additional information for researchers.

One of the genes listed in the OMIM catalog is the HADH gene, which encodes the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase. Changes in this gene can lead to HADH deficiency, a rare genetic disorder characterized by hypoglycemia (low blood sugar levels) and hyperinsulinism (excess insulin production).

The OMIM catalog not only focuses on genes and enzymes but also provides information on various diseases and disorders associated with them. For example, it includes information on congenital hyperinsulinism, a condition caused by genetic changes in the HADH gene. This condition results in abnormal insulin production and can lead to severe hypoglycemia.

Researchers and healthcare professionals can use the OMIM catalog for genetic testing and to gain a better understanding of the genetic basis of different diseases. The catalog provides information on testing laboratories and resources available for specific genetic conditions. It also lists the genes involved in these conditions, allowing researchers to explore their functions and possible therapeutic targets.

The OMIM catalog serves as a comprehensive registry of genetic information, bringing together data from various scientific resources. It plays a crucial role in advancing scientific research, improving diagnostic tests, and enhancing the understanding of genetic disorders and their implications for human health.

In conclusion, the OMIM catalog is an invaluable resource for researchers, scientists, and healthcare professionals. It provides comprehensive information on genes, enzymes, and related diseases, allowing for a better understanding of the genetic basis of various health conditions. By cataloging important genetic information, OMIM contributes to scientific advancements and the development of targeted treatments for genetic disorders.

Gene and Variant Databases

Genes play a crucial role in various biological processes, and understanding the functions and variations in genes is essential for researchers and healthcare professionals. Gene and variant databases are valuable resources that provide information about genes, their variants, and associated diseases.

These databases, such as Online Mendelian Inheritance in Man (OMIM), collect and curate information from scientific articles, genetic testing laboratories, and other reliable sources. They catalog genes, variant names, and their associated diseases and conditions. Researchers can access these databases to find information on specific genes, their functions, and related disorders.

The HADH gene, encoding the enzyme 3-hydroxyacyl-coa dehydrogenase, is one of the many genes listed in these databases. Variants in the HADH gene can lead to HADH deficiency, which affects the enzyme’s activity and can result in conditions such as hyperinsulinism and hypoglycemia.

Genetic testing can identify changes in the HADH gene and provide valuable information for diagnosing and managing these disorders. The databases contain additional resources on genetic testing laboratories and the specific tests they offer for HADH-related conditions.

Furthermore, gene and variant databases provide a comprehensive collection of references, including scientific articles and research papers. Researchers can explore these references to access more in-depth information about the HADH gene, its variants, and related disorders.

The databases also serve as a registry for genetic variants, allowing researchers and healthcare professionals to contribute and share information about new variants and their impact on gene function and disease development.

In conclusion, gene and variant databases are important resources for researchers and healthcare professionals working with genes and genetic disorders. They provide critical information on gene functions, variant names, associated diseases, genetic testing resources, and references for further research. Accessing these databases is valuable in understanding the HADH gene and its role in various disorders and conditions.

References

• Clayton PT. Disorders of mitochondrial fatty acid oxidation. J Inherit Metab Dis. 2011 Feb;34(1):163-78. doi: 10.1007/s10545-010-9197-4. Epub 2010 Mar 13. PMID: 20225848.
• Hyperinsulinism, Hyperammonemia, and Hyperammonemic Crises. 1993 Nov 15 [Updated 2020 Dec 10]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1193/
• OMIM. HSD17B10 deficiency. Entry #601860. Available from: https://omim.org/entry/601860
• OMIM. HADH deficiency. Entry #231530. Available from: https://omim.org/entry/231530
• OMIM. Hyperinsulinemic hypoglycemia, familial, 4. Entry #609975. Available from: https://omim.org/entry/609975
• PUBMED. HADH gene – Overview. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/3033/
• PUBMED. HSD17B10 gene – Overview. Available from: https://pubmed.ncbi.nlm.nih.gov/gene/3028/
• Registry of Genomic Variants. HADH gene. Available from: http://databases.lovd.nl/shared/genes/HADH
• Registry of Genomic Variants. HSD17B10 gene. Available from: http://databases.lovd.nl/shared/genes/HSD17B10
• Testing for Genetic Disorders. HADH Deficiency. Available from: https://www.genomeweb.com/scan/testing-genetic-disorders-28
• Testing for Genetic Disorders. HSD17B10 Deficiency. Available from: https://www.genomeweb.com/scan/testing-genetic-disorders-59