Lactate dehydrogenase deficiency is a rare genetic condition that affects the enzyme lactate dehydrogenase (LDH). LDH is responsible for converting lactate to pyruvate in the body. There are different genes that encode for the LDH enzyme, including LDHA and LDHB, which have different frequencies of mutations associated with the deficiency.

People with LDH deficiency may have symptoms such as muscle fatigue, exercise intolerance, and muscle pain. This is because the deficiency leads to an insufficient conversion of lactate, causing a buildup of lactate in the muscles. Additionally, the deficiency may be associated with other features depending on the specific LDH subunit affected.

Diagnosis of LDH deficiency can be done through genetic testing, which can identify mutations in the LDH genes. Other diagnostic tests may include measuring lactate levels in the blood or examining muscle tissue for LDH activity. It is important for individuals with LDH deficiency to receive appropriate genetic counseling and support.

There is currently no specific treatment for LDH deficiency. However, individuals may benefit from lifestyle modifications such as avoiding intense exercise and ensuring sufficient rest. It is also important for individuals with LDH deficiency to have regular follow-up with their healthcare provider to monitor their symptoms and manage any associated conditions.

For more information about lactate dehydrogenase deficiency, including additional resources and clinical trial information, visit the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD) website. They provide a wealth of information, articles, and support for individuals and families affected by this condition. Additional scientific research can be found on PubMed and OMIM, which are databases that catalog scientific articles and genetic information on various diseases.

Frequency

The frequency of lactate dehydrogenase deficiency varies among different populations and geographic regions. Lactate dehydrogenase deficiency is a rare genetic condition, with on average 1 in 50,000 to 100,000 people affected worldwide. However, the actual frequency can be higher in certain populations, such as those with consanguineous marriages or in regions with a higher prevalence of the condition.

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There are two main forms of lactate dehydrogenase deficiency, known as LDH-A and LDH-B deficiency, which are caused by mutations in the genes LDHA and LDHB, respectively. The inheritance pattern of LDH deficiency is autosomal recessive, meaning that individuals must inherit two mutated genes (one from each parent) to have the condition.

LDH-A deficiency is associated with additional physical and clinical features, such as exercise intolerance, muscle cramps, and myoglobinuria. LDH-B deficiency, on the other hand, mainly affects glycogen metabolism in the muscles and can result in muscle weakness and fatigue.

The frequency of specific mutations in the LDHA and LDHB genes can vary among different populations. Genetic testing can help diagnose lactate dehydrogenase deficiency and identify the specific mutations present in a patient.

There are various resources available to learn more about lactate dehydrogenase deficiency, including scientific articles, research studies, and advocacy organizations. Some helpful resources include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Lactate Dehydrogenase Deficiency page on the ClinVar database. Additionally, the ClinicalTrials.gov website provides information about ongoing clinical trials related to lactate dehydrogenase deficiency and other related diseases.

Causes

Lactate dehydrogenase deficiency is a rare genetic condition that is caused by mutations in the LDHA or LDHB genes. These genes provide instructions for making the LDH enzyme, which is responsible for converting lactate to pyruvate during physical activity and exercise.

There are two forms of lactate dehydrogenase: LDH-A and LDH-B. Studies have shown that mutations in either the LDHA or LDHB genes can result in lactate dehydrogenase deficiency.

The inheritance pattern of lactate dehydrogenase deficiency is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

People with lactate dehydrogenase deficiency have insufficient LDH enzyme activity in their muscles and other tissues. As a result, lactate builds up in the blood and muscles during physical activity, leading to symptoms such as muscle pain, cramps, and fatigue.

LDH deficiency is also associated with other genetic diseases, such as glycogen storage diseases and myoglobinuria. These conditions are characterized by the accumulation of glycogen and myoglobin, respectively, in tissues and can further contribute to the symptoms and clinical features observed in individuals with LDH deficiency.

Diagnosis of lactate dehydrogenase deficiency can be confirmed through genetic testing, which involves analyzing the LDHA and LDHB genes for mutations. Additional clinical tests may include lactate and pyruvate levels in blood and urine, as well as exercise testing to evaluate lactate production during physical activity.

While treatment options for lactate dehydrogenase deficiency are limited, supportive care and management of symptoms can significantly improve a patient’s quality of life. Patients and their families can seek support from advocacy organizations and online resources, such as OMIM and PubMed, for more information on the condition, associated diseases, and available research studies.

It is important for healthcare professionals and researchers to continue studying lactate dehydrogenase deficiency to better understand its causes, genetic mutations, associated diseases, and potential treatment options. By conducting more scientific studies and clinical trials, we can support this rare condition and learn more about its genetic basis and underlying mechanisms.

Learn more about the genes associated with Lactate dehydrogenase deficiency

Lactate dehydrogenase deficiency, also known as LDH deficiency, is a genetic disorder that affects the enzyme lactate dehydrogenase-a (LDHA). LDHA is responsible for converting lactate to pyruvate, a process that plays a crucial role in energy production during exercise and other physical activities.

LDHA is composed of four subunits, and mutations in the LDHA gene can lead to a deficiency in the enzyme. The deficiency can manifest with different symptoms and severity levels in affected individuals.

There are several genes associated with lactate dehydrogenase deficiency, including LDHA. Further research and scientific studies on these genes have provided additional information about the inheritance patterns, clinical features, and frequency of the deficiency in different populations.

To learn more about the genes associated with lactate dehydrogenase deficiency, you can refer to the following resources:

1. OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for lactate dehydrogenase deficiency and find detailed information about the associated genes and their mutations.
2. PubMed: PubMed is a database of scientific articles. Searching for lactate dehydrogenase deficiency and its associated genes will give you access to research papers and studies conducted on this topic.
3. ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials related to lactate dehydrogenase deficiency. These trials may focus on gene therapy, testing new treatments, or exploring the underlying mechanisms of the disease.
4. Genetic Advocacy / Support Groups: Genetic advocacy and support groups specializing in lactate dehydrogenase deficiency can provide additional information, resources, and support for patients and their families.
5. Citation in Scientific Articles: Reading scientific articles related to lactate dehydrogenase deficiency will often mention the associated genes and provide references for further reading.

Learning more about the genes associated with lactate dehydrogenase deficiency can help researchers, clinicians, and patients better understand the disease, its inheritance patterns, and possible treatment options. Continued research and information sharing are essential for advancing our knowledge and finding better ways to support people with this genetic disorder.

Inheritance

Lactate dehydrogenase deficiency is a rare genetic condition that affects the way the body converts glucose into energy in the form of ATP. This condition is caused by mutations in the LDHA or LDHB genes, which provide instructions for making the lactate dehydrogenase enzyme.

The inheritance of lactate dehydrogenase deficiency can be either autosomal dominant or autosomal recessive. In autosomal dominant inheritance, a person with one copy of the mutated gene is affected by the condition. In autosomal recessive inheritance, both copies of the LDHA or LDHB genes must be mutated for a person to have the condition.

Research on lactate dehydrogenase deficiency is limited, and more studies are needed to fully understand the condition and its inheritance patterns. However, it is known that the LDHA and LDHB genes are responsible for producing different subunits of the lactate dehydrogenase enzyme, which is necessary for the conversion of lactate to pyruvate.

LDHA deficiency is associated with a more severe clinical phenotype, with symptoms including exercise intolerance, muscle cramps, and myoglobinuria. LDHB deficiency is less well-studied, but individuals with LDHB deficiency may have similar symptoms and features as those with LDHA deficiency.

It is important to note that lactate dehydrogenase deficiency is different from other lactate-related diseases, such as glycogen storage diseases or myoglobinopathies. Each of these conditions has its own genetic causes and clinical features.

Genetic testing can be done to confirm a diagnosis of lactate dehydrogenase deficiency. This testing can identify specific mutations in the LDHA or LDHB genes that are associated with the condition. Genetic counseling is also available to provide support and resources for individuals and families affected by lactate dehydrogenase deficiency.

For more information about lactate dehydrogenase deficiency, support resources, and advocacy organizations, refer to the OMIM catalog of genetic diseases and the LDHA and LDHB pages on the OMIM website. Additional articles and research studies can be found on PubMed, a database of biomedical literature. ClinicalTrials.gov may also have information on ongoing clinical trials related to lactate dehydrogenase deficiency.

Other Names for This Condition

Lactate dehydrogenase deficiency is also known by several other names, including:

• Lactate dehydrogenase A deficiency
• Lactic acidemia due to lactate dehydrogenase A deficiency
• LDHA deficiency
• Lactate dehydrogenase-B deficiency
• Lactic acidemia due to lactate dehydrogenase-B deficiency

The condition is associated with mutations in the LDHA and LDHB genes, which encode the lactate dehydrogenase enzyme. There are two subunits, LDHA and LDHB, that can combine to form different forms of lactate dehydrogenase in different tissues. The LDHA subunit is primarily found in muscles, while the LDHB subunit is found in other tissues.

LDHA deficiency is a rare condition with a frequency of less than 1 in 1 million people. LDHB deficiency is even rarer, with only a few cases reported in the scientific literature.

The deficiency causes a buildup of lactate in the muscles and tissues, which can lead to muscle pain and cramps, exercise intolerance, and fatigue. Some individuals with LDHA deficiency may also have recurrent episodes of myoglobinuria, a condition where myoglobin, a protein found in muscle tissue, is released into the urine.

Diagnosis of LDHA and LDHB deficiency can be confirmed through genetic testing. Additional testing, such as lactate levels in the blood during exercise stress tests, may be necessary to evaluate the severity of the condition in each patient.

There is currently no specific treatment for the deficiency. Management involves avoiding strenuous exercise and other triggers that may lead to symptoms. Genetic counseling may be recommended for affected individuals and their families to understand the inheritance pattern of the condition.

For more information about lactate dehydrogenase deficiency, the following resources may be useful:

• The National Glycogen Storage Disease Program has additional information and resources on their website
• The National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center provides information and support for people with rare diseases
• The OMIM database provides detailed scientific and genetic information about lactate dehydrogenase deficiency
• PubMed contains articles and studies on the condition
• ClinicalTrials.gov lists ongoing clinical trials that may be relevant for researching and treating lactate dehydrogenase deficiency
• The Lactate Dehydrogenase Deficiency Advocacy and Support Center offers support and resources for individuals and families affected by the condition
• References:

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Additional Information Resources

For additional information on lactate dehydrogenase deficiency, you can consult the following resources:

• ClinicalTrials.gov: This website provides information on ongoing clinical trials related to lactate dehydrogenase deficiency and other diseases. You can find information about the studies, their goals, eligibility criteria, and contact information for participating centers.
• PubMed: PubMed is a widely used database for scientific articles. You can search for articles related to lactate dehydrogenase deficiency, its causes, symptoms, inheritance patterns, and treatment options. The database can provide valuable information for both healthcare professionals and patients.
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. The database includes detailed information on the genes associated with lactate dehydrogenase deficiency, including the LDHA and LDHB genes. You can learn about the frequency of mutations in these genes, their clinical features, and the inheritance patterns of the condition.
• Advocacy Organizations: There are several advocacy organizations dedicated to supporting individuals and families affected by lactate dehydrogenase deficiency and other rare diseases. These organizations provide information, resources, and support for patients, their families, and healthcare professionals. They can also help connect you with other people who have the condition, allowing you to share experiences and learn from one another.
• Medical Centers: Some medical centers have specialized clinics or departments that focus on rare diseases and genetic conditions. These centers can provide comprehensive testing, diagnosis, and treatment options for lactate dehydrogenase deficiency. They may also conduct research studies to further understand the condition and develop effective interventions.

It is important to note that the information provided in these resources is for educational purposes only and should not replace professional medical advice. If you suspect you or someone you know may have lactate dehydrogenase deficiency, it is recommended to consult with a healthcare professional for a proper diagnosis and guidance regarding treatment options.

Genetic Testing Information

If you or someone you know has been diagnosed with lactate dehydrogenase deficiency, it may be helpful to learn more about this condition by seeking additional information. Genetic testing can provide important insights into the causes and inheritance patterns of this rare condition.

Genetic testing can help identify mutations in the LDHA and LDHB genes, which encode the subunits of lactate dehydrogenase. The LDHA gene provides instructions for making the lactate dehydrogenase-A subunit, while the LDHB gene provides instructions for making the lactate dehydrogenase-B subunit.

Testing for mutations in these genes can be done through various genetic testing methods, including sequencing the DNA or looking for specific known mutations. This testing can help confirm a diagnosis and determine the specific genetic changes that may be causing the condition.

Genetic testing can also help determine the inheritance pattern of lactate dehydrogenase deficiency. This information can be valuable for understanding the likelihood of passing the condition on to future generations and for making informed reproductive decisions.

It is important to note that genetic testing for lactate dehydrogenase deficiency is not widely available and may only be offered in specialized laboratories or research centers. If you are interested in pursuing genetic testing, it is recommended to consult with a healthcare professional or genetic counselor who can guide you through the process.

There are several resources available to learn more about lactate dehydrogenase deficiency and genetic testing:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes, genetic conditions, and genetic testing resources.
• ClinicalTrials.gov: This online database provides information about ongoing research studies and clinical trials related to lactate dehydrogenase deficiency.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “lactate dehydrogenase deficiency” or related terms can provide access to scientific publications and studies.
• Genetic support organizations and advocacy groups: There are various organizations and advocacy groups that provide support, resources, and information for individuals and families affected by genetic conditions. These organizations can offer guidance and connect individuals with community support.
• Research center websites: Many research centers and institutions have websites dedicated to genetic conditions like lactate dehydrogenase deficiency. These websites often provide information about ongoing research, clinical trials, and patient support resources.
• References: Scientific articles and research papers cited in the context of lactate dehydrogenase deficiency can be valuable sources of information and further reading material.

In summary, genetic testing can provide important information about the causes and inheritance of lactate dehydrogenase deficiency. By seeking more information and resources, individuals and families affected by this condition can better understand its features, associated diseases, and available support options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides information on genetic and rare diseases to patients, their families, healthcare professionals, and the public.

Lactate dehydrogenase deficiency is a genetic condition that affects the enzyme lactate dehydrogenase (LDH). LDH is responsible for the conversion of pyruvate to lactate in the muscles and other tissues. There are two different forms of the enzyme, LDH-A and LDH-B, each composed of two subunits encoded by the LDHA and LDHB genes, respectively.

Inheritance of lactate dehydrogenase deficiency can be autosomal recessive or autosomal dominant, depending on the specific mutations in the LDHA or LDHB genes. Autosomal recessive inheritance means that both copies of the gene in each cell have mutations, while autosomal dominant inheritance means that a mutation in one copy of the gene is sufficient to cause the condition.

People with lactate dehydrogenase deficiency may have different signs and symptoms, depending on which subunit of the enzyme is affected. The LDHA mutation is associated with exercise intolerance and elevated levels of lactate in the blood (lactic acidosis). The LDHB mutation is associated with myoglobinuria, a condition in which muscle proteins (myoglobin) are released into the urine.

To learn more about lactate dehydrogenase deficiency, you can visit the GARD website for more information. GARD provides a variety of resources, including articles, references, and links to other websites and organizations for additional support and advocacy. You can also find more information on genetic testing, clinical trials, and research studies related to lactate dehydrogenase deficiency.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in assisting individuals and families affected by Lactate Dehydrogenase Deficiency (LDHA). These resources offer physical and emotional support, as well as reliable information about the condition. They connect patients with other individuals and families facing similar challenges, provide access to research studies and clinical trials, and advocate for the needs of the LDHA community.

Below is a list of some patient support and advocacy resources available for individuals and families affected by LDHA:

• Lactate Dehydrogenase Deficiency Association – A nonprofit organization dedicated to providing support, information, and resources for individuals with LDHA and their families. The association offers educational materials, patient support groups, and promotes awareness of the condition.
• Genetic and Rare Diseases Information Center – A federally funded resource that provides information about various genetic and rare diseases, including LDHA. The center offers a comprehensive overview of the condition, including its causes, inheritance patterns, and available treatment options.
• OMIM (Online Mendelian Inheritance in Man) – A database that provides detailed information about various genetic disorders, including LDHA. OMIM offers extensive scientific references, clinical features, and associated genes for individuals interested in learning more about the condition.
• PubMed – A database of scientific articles and studies covering a wide range of medical topics, including LDHA. PubMed can be a valuable resource for accessing research articles on the genetic mutations, clinical features, and management of LDHA.
• ClinicalTrials.gov – A registry and database of publicly and privately supported clinical studies conducted around the world. Individuals with LDHA may find this resource helpful for exploring ongoing research studies and clinical trials that focus on the development of new treatment options and interventions.

It is important for individuals and families affected by LDHA to utilize these resources to learn more about the condition, connect with others, and stay informed about the latest advancements in research and treatment. Patient support and advocacy organizations work tirelessly to ensure that the needs of individuals with LDHA are met and that they have access to the best possible care.

Research Studies from ClinicalTrialsgov

Scientific research studies conducted by ClinicalTrials.gov have provided valuable insights into lactate dehydrogenase deficiency, a condition caused by mutations in the LDHA or LDHB genes. Lactate dehydrogenase is an enzyme that converts pyruvate to lactate, which is necessary for energy production in tissues such as muscles. Deficiency in lactate dehydrogenase can lead to exercise intolerance and muscle damage.

Research studies have explored the genetic basis of lactate dehydrogenase deficiency and identified various mutations in the LDHA and LDHB genes. These studies have also investigated the frequency of different mutations and their association with clinical features of the condition. For example, mutations in the LDHA gene have been associated with a rare form of lactate dehydrogenase deficiency called LDHA-associated myoglobinuria, which is characterized by muscle pain and myoglobinuria after physical exercise.

ClinicalTrials.gov provides resources for patients and researchers to learn more about lactate dehydrogenase deficiency. The site offers information on ongoing clinical trials, genetic testing options, and additional references to scientific articles and publications. These resources support further research into the genetic inheritance patterns, causes, and treatment options for lactate dehydrogenase deficiency.

Further studies are needed to understand the full spectrum of lactate dehydrogenase deficiencies and their associated diseases. The genetic testing catalog on ClinicalTrials.gov provides a comprehensive list of genes associated with lactate dehydrogenase deficiencies, helping clinicians and researchers identify the specific genes responsible for each patient’s condition.

Through research studies conducted by ClinicalTrials.gov, more information about lactate dehydrogenase deficiency and related diseases continues to emerge. These studies contribute to the scientific understanding of the condition and may lead to the development of targeted therapies and improved patient care.

Catalog of Genes and Diseases from OMIM

If you want to learn more about lactate dehydrogenase deficiency, OMIM is a great resource to start with. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genetic diseases and the genes associated with them. In the case of lactate dehydrogenase deficiency, OMIM offers valuable insights into the genetic causes, clinical features, and inheritance patterns of this condition.

Lactate dehydrogenase deficiency is caused by mutations in the LDHA or LDHB genes, which encode the subunits of the lactate dehydrogenase enzyme. This enzyme converts pyruvate, a product of glucose metabolism, into lactate. Deficiency of this enzyme leads to the accumulation of pyruvate and lactate in the muscles, resulting in muscle fatigue and pain during exercise.

OMIM provides a catalog of genes associated with lactate dehydrogenase deficiency, namely LDHA and LDHB. Each gene entry includes information about the gene’s location, function, and inheritance. OMIM also provides references to scientific articles and studies, allowing you to delve deeper into the research on lactate dehydrogenase deficiency.

In addition to information about the genes involved, OMIM also offers insights into the clinical features and associated diseases of lactate dehydrogenase deficiency. For example, some people with this condition may have increased levels of myoglobin, a protein found in muscle tissue, in their urine. OMIM provides information about the frequency of lactate dehydrogenase deficiency, as well as any additional features that may be present in affected individuals.

OMIM is not just a catalog of genes and diseases; it also serves as a valuable resource for patient advocacy and support. The database provides links to resources such as the Genetic Testing Registry, which can help individuals find genetic testing centers that offer testing for lactate dehydrogenase deficiency. OMIM also provides links to clinical trials related to lactate dehydrogenase deficiency on ClinicalTrials.gov, allowing you to stay updated on the latest research and potential treatment options.

In conclusion, OMIM is an excellent resource for learning about lactate dehydrogenase deficiency. Its catalog of genes and diseases provides information on the genetic causes, clinical features, and inheritance patterns of this rare condition. Whether you are a healthcare professional, a researcher, or someone affected by lactate dehydrogenase deficiency, OMIM can provide you with the necessary information and support to better understand this condition.

Scientific Articles on PubMed

PubMed, a resource for additional information on scientific articles, provides a wealth of research on lactate dehydrogenase deficiency (LDH). LDH is an inherited condition that results in the insufficient production of the enzyme lactate dehydrogenase (LDH), which converts pyruvate to lactate. This deficiency is associated with various features and can cause muscle damage, exercise intolerance, and other clinical symptoms in affected individuals.

LDH is composed of two subunits, LDH-A and LDH-B, encoded by the genes LDHA and LDHB, respectively. Mutations in these genes can lead to a deficiency in LDH, causing the accumulation of lactate in the tissues. LDH deficiency is rare, and its frequency varies among different populations.

Scientific studies on LDH deficiency have focused on understanding the genetic basis, clinical features, and inheritance patterns of this condition. Researchers have identified various mutations in the LDHA and LDHB genes associated with LDH deficiency. These studies provide valuable insights into the underlying mechanisms and potential therapeutic approaches for this genetic disorder.

In the clinical setting, the diagnosis of LDH deficiency can be challenging. Testing for LDH levels and other relevant biomarkers, such as myoglobin, can be helpful in evaluating patient symptoms and assessing muscle damage. Clinicians should consider LDH deficiency as a potential cause of unexplained exercise intolerance and muscle-related symptoms.

Advocacy and support resources, such as the Lactate Dehydrogenase Deficiency Center and OMIM (Online Mendelian Inheritance in Man), provide additional information on this condition. These resources can help patients and healthcare professionals learn more about LDH deficiency, its features, and available treatments.

The scientific articles available on PubMed offer a wide range of information on LDH deficiency, including the clinical manifestations, genetic aspects, and therapeutic options. Researchers and clinicians can find valuable references and citations from these studies to further their understanding and contribute to ongoing research in this field.

For more information on scientific articles related to LDH deficiency, visit PubMed and search for keywords such as “lactate dehydrogenase deficiency,” “LDHA,” “LDHB,” or “lactate dehydrogenase mutations.” Additionally, clinicaltrials.gov provides information on ongoing research studies and clinical trials related to LDH deficiency and other related diseases.

Overall, scientific articles on PubMed offer a comprehensive resource for researchers, clinicians, and patients seeking information about lactate dehydrogenase deficiency and its associated features, genetic mutations, and potential treatment options.

References

• Advocacy Organizations and Support Groups

  National Organization for Rare Disorders (NORD) – Provides information and resources for rare genetic conditions. They have a catalog of different diseases and advocacy resources.

• Scientific and Research Centers

  Online Mendelian Inheritance in Man (OMIM) – Provides comprehensive information about genetic diseases and conditions. This center is a valuable resource for researching genes and associated features.

• Studies and Research Articles

  PubMed – A database of scientific research articles. Searching for “lactate dehydrogenase deficiency” will yield additional information and studies about this condition.

• Clinical Trials

  ClinicalTrials.gov – Provides information about ongoing and completed clinical trials related to genetic diseases, including lactate dehydrogenase deficiency. This resource can help patients and healthcare providers learn about available testing and treatment options.