The LDHA gene, also known as lactate dehydrogenase A, is one of the genes involved in the production of the enzyme variant called lactate dehydrogenase. This enzyme is responsible for the conversion of lactate to pyruvate, an essential step in energy production. Mutations in the LDHA gene can lead to abnormalities in the production or function of this enzyme, resulting in various diseases and conditions.
There are several scientific databases and resources that catalog the mutations in the LDHA gene and provide information on the associated diseases and conditions. The OMIM database and the PubMed database are two well-known resources that list scientific articles and references related to this gene and its genetic changes. Additional information can be found on health-related websites, which often provide comprehensive information on genetic testing, conditions, and treatments related to LDHA gene mutations.
Deficiency in the LDHA gene can have significant effects on muscle function and exercise tolerance. As a result of this deficiency, there can be an increase in lactate production during physical activity, leading to muscle fatigue and reduced performance. Understanding the genetic changes in the LDHA gene is therefore crucial for diagnosing and managing these health conditions. Genetic testing can be performed to identify mutations in the LDHA gene and guide appropriate treatment and management strategies.
In conclusion, the LDHA gene and its related enzyme lactate dehydrogenase play an important role in energy production and muscle function. Mutations in this gene can lead to various diseases and conditions, which can be diagnosed and managed through genetic testing and appropriate treatment strategies. There are several databases and resources available that provide comprehensive information and references related to the LDHA gene and its genetic changes.
Health Conditions Related to Genetic Changes
The LDHA gene is responsible for producing the lactate dehydrogenase A enzyme. Mutations or genetic changes in this gene can result in different health conditions related to enzyme deficiency. Some of these conditions are:
- Lactate dehydrogenase A deficiency
- Exercise-induced rhabdomyolysis
Lactate dehydrogenase A deficiency is a rare genetic disorder that affects the muscles. It is caused by mutations in the LDHA gene, leading to insufficient production of the lactate dehydrogenase A enzyme.
Exercise-induced rhabdomyolysis is a condition characterized by the breakdown of muscle tissue after intense exercise. It has been found to be associated with a variant of the LDHA gene.
Testing for genetic changes in the LDHA gene can be done through various methods. Additional information on genetic tests for LDHA-related conditions can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing databases.
For more information on specific health conditions related to genetic changes in the LDHA gene, refer to the following resources:
- OMIM: OMIM provides detailed information on genetic diseases and genes. Search using the gene name (LDHA) or the specific health condition.
- PubMed and other scientific databases: These databases contain scientific articles that discuss the relationship between LDHA gene mutations and various health conditions.
- Genetic testing catalogs: These catalogs provide information on available genetic tests for LDHA-related conditions. They may include references to scientific articles and resources.
It is important to note that sufficient research and testing have not been made on all possible health conditions related to genetic changes in the LDHA gene. This means that there may be other conditions not listed here.
References:
- Online Mendelian Inheritance in Man (OMIM): [insert link to OMIM]
- PubMed: [insert link to PubMed]
- [Insert name of genetic testing catalog]: [insert link to the genetic testing catalog]
Lactate dehydrogenase deficiency
Lactate dehydrogenase deficiency, also known as LDHA deficiency, is a genetic condition related to the LDHA gene. LDHA encodes the lactate dehydrogenase-A enzyme which plays a crucial role in the process of converting pyruvate to lactate during periods of low oxygen availability, such as intense exercise.
Individuals with LDHA deficiency have insufficient levels of lactate dehydrogenase, resulting in impaired lactate production and reduced ability to perform strenuous exercise. This condition is often asymptomatic, but in some cases, it can lead to muscle weakness, fatigue, and cramping during exercise.
The LDHA gene mutations are the primary cause of lactate dehydrogenase deficiency. Different genetic changes in LDHA can result in various forms and severities of the condition. The specific variant and its impact on lactate dehydrogenase production determine the symptoms and the severity of the deficiency.
Testing for lactate dehydrogenase deficiency can be done through genetic tests, where specific LDHA gene mutations are identified. This testing is crucial for obtaining a definitive diagnosis.
Additional information related to lactate dehydrogenase deficiency can be found in scientific articles, research papers, and other resources. Pubmed and OMIM databases are examples of valuable resources that list articles, references, and information on LDHA deficiency.
The LDHA gene deficiency also has relevance to other muscle-related conditions and health implications. Understanding the genetic changes in the LDHA gene can provide insights into the underlying mechanisms of other diseases and conditions.
Genetic testing and knowledge of LDHA gene mutations are essential for proper diagnosis and management of lactate dehydrogenase deficiency. It can help identify individuals at risk for this condition and allows for appropriate genetic counseling and treatment plans.
In summary, lactate dehydrogenase deficiency is a genetic condition caused by mutations in the LDHA gene, resulting in reduced lactate dehydrogenase enzyme activity. This deficiency can lead to impaired lactate production and affect exercise performance. Genetic testing and access to databases and scientific resources can provide valuable information and support for individuals with LDHA deficiency and related conditions.
Other Names for This Gene
The LDHA gene is also known by other names in different databases and scientific resources. These names are used to refer to the same gene but may vary depending on the source:
- Lactate dehydrogenase A
- LDH-A
- LDH muscle subunit
- Lactate dehydrogenase-A
- LDH-1
These names can be found in databases such as OMIM, Enzyme, and Catalog of Genes and Genetic Diseases. Additional names related to this gene may also be listed in scientific articles and references on genetic testing and related conditions.
The LDHA gene plays a role in the production of an enzyme called lactate dehydrogenase A. Mutations or deficiencies in this gene can result in various health conditions. Testing for LDHA gene mutations and deficiencies may be done through genetic tests, which are available in certain laboratories and healthcare facilities. Sufficient information on LDHA gene testing, including available tests and related resources, can be obtained from these facilities.
Additional Information Resources
In addition to the resources mentioned in the previous sections, there are several other valuable sources of information on the LDHA gene and related conditions. These resources can provide you with more in-depth knowledge and help you understand the implications of genetic testing.
- PubMed: A scientific database that contains a vast collection of articles on various genetic diseases, genetic testing, and related topics. You can search for specific articles by entering relevant keywords such as LDHA gene, lactate dehydrogenase-a deficiency, or related diseases.
- Genetic Testing Registry: A comprehensive registry that provides information about genetic tests and their uses. You can find details about the LDHA gene testing, including the different genetic tests available, their purpose, and any associated conditions.
- Catalog of Human Genes and Genetic Disorders: An extensive database that provides a detailed catalog of genes, genetic disorders, and related information. You can search for LDHA gene to access information on the gene itself, related diseases, and any known variants or mutations.
- Other Genetic Resources: Various organizations and institutions, such as medical universities and research centers, often publish articles, guidelines, and educational materials on genetic health. These resources can offer additional information on LDHA gene, its functions, and any changes or mutations associated with it.
It is important to note that genetic testing and the interpretation of the results should always be discussed with a healthcare professional or a genetics specialist. They can provide you with sufficient guidance and assist you in interpreting the results in the context of your overall health and medical history.
Tests Listed in the Genetic Testing Registry
The LDHA gene, which encodes lactate dehydrogenase-A (LDH-A) enzyme, is associated with various conditions and diseases. Genetic testing for LDHA gene variations can provide valuable information about an individual’s health and potential risk for certain diseases.
The Genetic Testing Registry (GTR) catalogs the tests available for the LDHA gene. The GTR is a scientific database that provides information on genetic tests, including the names of the tests, the genes involved, and the conditions or diseases that the tests can detect or predict.
Genetic tests listed in the GTR for the LDHA gene include tests for changes or mutations in the gene that may lead to LDHA enzyme deficiency. These tests can help diagnose LDHA enzyme deficiency and provide additional information about related conditions or diseases.
The GTR also provides links to scientific articles and references from PubMed and OMIM, two popular scientific databases. These articles and references contain valuable information about the LDHA gene and its role in various diseases and conditions.
Genetic testing for LDHA gene variants can be particularly important for individuals who experience symptoms such as muscle weakness, fatigue, or exercise intolerance. These symptoms may indicate a potential LDHA enzyme deficiency, and genetic testing can help confirm the diagnosis.
By providing information about LDHA gene variants and their association with specific diseases or conditions, the GTR helps healthcare professionals and individuals make informed decisions about their health. The GTR serves as a valuable resource for genetic testing and related information.
| Test Name | Condition/Disease | References |
|---|---|---|
| LDHA Gene Mutation Analysis | LDHA enzyme deficiency | PubMed |
| LDHA Gene Variant Testing | LDHA enzyme deficiency and related conditions | OMIM |
| LDHA Enzyme Activity Test | LDHA enzyme deficiency | ClinVar |
Genetic testing for LDHA gene variants can provide important information about an individual’s health and potential risk for certain diseases or conditions. By utilizing the resources available through the GTR, individuals and healthcare professionals can make informed decisions based on scientific evidence and references.
Scientific Articles on PubMed
PubMed is a comprehensive database of scientific articles that provides a valuable resource for testing and researching genetic mutations. The LDHA gene, which encodes for lactate dehydrogenase-A enzyme, is of particular interest in various diseases and conditions listed on the Online Mendelian Inheritance in Man (OMIM) database. Multiple articles related to the genetic variants and changes in LDHA have been made available on PubMed, providing additional information on the conditions resulting from LDHA deficiency.
Genetic testing is sufficient to identify mutations in the LDHA gene and can be used to study the enzyme deficiencies. PubMed catalogues scientific articles and references from other databases, making it a reliable source of information for health professionals and researchers.
Research on the LDHA gene has shown that genetic variants can result in different lactate dehydrogenase deficiencies, affecting the muscles and resulting in changes during exercise. By accessing the resources available on PubMed, health professionals can access scientific articles and references related to LDHA gene mutations and related conditions.
The LDHA gene is just one of the many genes listed on PubMed, and it is important to consult the registry for additional genetic information. Using PubMed, researchers can find scientific articles and references related to LDHA gene mutations and deficiencies, providing valuable information for further research and testing.
| Gene | Mutations | Dehydrogenase | Diseases |
|---|---|---|---|
| LDHA | Genetic variants, changes | Lactate dehydrogenase-A | Muscle-related conditions, exercise-induced changes |
The information provided on PubMed can help researchers and health professionals better understand the genetic deficiencies associated with LDHA mutations. By consulting scientific articles and references, researchers can gain a deeper understanding of the specific gene changes and their impact on health and disease.
In conclusion, PubMed offers a wide range of scientific articles and references related to LDHA gene mutations and deficiencies. By utilizing this valuable resource, researchers and health professionals can access the latest information and contribute to further advancements in the understanding and treatment of genetic conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog is a valuable resource for researchers and healthcare professionals working in the field of genetics and related diseases. It provides comprehensive information about genes and genetic disorders, including the LDHA gene and related conditions.
The LDHA gene encodes for the enzyme lactate dehydrogenase-A (LDH-A), which is involved in the production of energy in muscles during exercise. Genetic changes in this gene can lead to LDHA deficiency, a rare genetic condition characterized by impaired lactate metabolism and exercise intolerance.
OMIM provides a detailed description of LDHA deficiency, including information on its clinical features, genetic mutations associated with the condition, and the inheritance pattern. The OMIM database serves as a comprehensive registry of genetic conditions related to the LDHA gene, allowing scientists and healthcare professionals to access the most up-to-date information on this disorder.
For individuals suspected to have LDHA deficiency, genetic testing can be performed to identify the specific mutations in the LDHA gene. OMIM provides a list of laboratories that offer LDHA gene testing, as well as additional information on the testing procedures and resources for genetic counseling.
OMIM also includes articles and references from scientific literature, including PubMed, that discuss LDHA deficiency and other related disorders. These resources provide further insight into the genetic basis of LDHA deficiency and potential treatment options.
In summary, the OMIM catalog is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic diseases. Its comprehensive information on the LDHA gene and related disorders, along with its extensive database of genes and diseases, make it an essential tool for understanding and researching genetic conditions.
Gene and Variant Databases
The LDHA gene is associated with various diseases and conditions, and there are different resources available to access information on the gene and its variants.
One of the primary resources for information on genes and their variants is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on the LDHA gene, including its function, associated diseases, and genetic mutations. It also includes references to scientific articles and additional resources for further information.
Another important resource for genetic information is the GeneTests website. This website provides a registry of genes, including LDHA, and offers information on genetic testing options for various conditions. It provides information on the specific genetic changes or mutations associated with LDHA deficiency and related diseases.
In addition to these databases, PubMed is a valuable resource for accessing scientific articles and studies on the LDHA gene and its variants. This database allows users to search for specific keywords, such as LDHA or lactate dehydrogenase-A, and retrieve relevant scientific articles and research papers on the topic.
Furthermore, the Human Gene Mutation Database (HGMD) is another resource that provides comprehensive and up-to-date information on genetic mutations associated with various diseases, including LDHA deficiency. It includes information on the specific mutations, their clinical significance, and references to scientific articles.
Overall, these genetic databases and resources provide sufficient information on the LDHA gene, its variants, and their association with different diseases and conditions. Researchers, healthcare professionals, and individuals interested in genetic testing or health information can utilize these resources to access reliable and scientific information on the LDHA gene and its variants.
References
- Lactate dehydrogenase A (LDHA) gene
- LDHA Gene – Genetics Home Reference: Information about the LDHA gene, including genetic changes and related diseases.
- LDHA – OMIM: A catalog of human genes and genetic disorders, listing the LDHA gene and associated conditions.
- LDHA gene – PubMed: Scientific articles about the LDHA gene and its role in health and diseases.
- LDHA Variant of Unknown Significance – ClinVar: Information about a variant of the LDHA gene that has unknown significance.
- Lactate dehydrogenase A deficiency – Genetic and Rare Diseases Information Center: Information about LDHA deficiency, a condition caused by mutations in the LDHA gene.
- Exercise-induced Lactate Dehydrogenase A deficiency – Orphanet: Information about a specific form of LDHA deficiency that is triggered by exercise.
- Dehydrogenase LDHA – Ensembl: Information about the LDHA gene, including its location and associated genetic variants.