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Dihydrolipoamide dehydrogenase deficiency is a rare genetic condition that causes episodes of life-threatening metabolic acidosis. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. This deficiency is caused by mutations in the gene encoding dihydrolipoamide dehydrogenase, an enzyme involved in the production of energy from pyruvate.

Patients with dihydrolipoamide dehydrogenase deficiency often experience episodes of metabolic acidosis, which can be triggered by illness, fasting, or prolonged exercise. These episodes can be life-threatening if not promptly treated. Symptoms may include lethargy, poor feeding, vomiting, rapid breathing, and seizures.

Diagnosis of dihydrolipoamide dehydrogenase deficiency can be difficult, as the symptoms are non-specific and can mimic other diseases. Genetic testing can help confirm the diagnosis. Additional testing, such as blood tests and urine organic acid analysis, may also be done to support the diagnosis.

Treatment for dihydrolipoamide dehydrogenase deficiency involves managing the symptoms and preventing metabolic decompensation. This may include a low-protein diet, avoiding triggers such as fasting or prolonged exercise, and providing supportive care during episodes of metabolic acidosis. Long-term management may require ongoing medical supervision and dietary modifications.

For more information about dihydrolipoamide dehydrogenase deficiency, you can visit the Genetic and Rare Diseases Information Center (GARD) website. The GARD website provides comprehensive resources on the condition, including scientific articles, patient support organizations, and references to other online resources. You can also find information about other genetic diseases on the GARD website.

References:

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OMIM: Dihydrolipoamide Dehydrogenase Deficiency;

PubMed: Dihydrolipoamide Dehydrogenase Deficiency.

In conclusion, dihydrolipoamide dehydrogenase deficiency is a rare genetic condition that causes life-threatening episodes of metabolic acidosis. It is caused by mutations in the gene encoding dihydrolipoamide dehydrogenase, an enzyme involved in energy production. Diagnosis can be challenging, and treatment involves managing symptoms and preventing metabolic decompensation. The GARD website provides additional information and resources for patients and healthcare providers to learn more about this condition.

Frequency

Dihydrolipoamide dehydrogenase deficiency, also known as αKGDH deficiency, is a rare genetic condition associated with difficulty in the production of an enzyme called dihydrolipoamide dehydrogenase. This enzyme is responsible for the metabolism of alpha-ketoglutarate, a key intermediate in the citric acid cycle.

The frequency of Dihydrolipoamide dehydrogenase deficiency is not well established, but it is believed to be a very rare condition. There have been only a few reported cases of the disease. According to a study published on PubMed, the gene that causes this deficiency is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the gene (one from each parent) to develop the disease.

Genetic testing can be done to confirm the diagnosis of Dihydrolipoamide dehydrogenase deficiency. This can be beneficial for patients and their families, as it provides them with more information about the condition and its inheritance pattern. Additionally, genetic testing can support the advocacy for additional resources and support for patients living with this life-threatening genetic disease.

For more information on Dihydrolipoamide dehydrogenase deficiency and other related diseases, the patient and healthcare provider can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR). These resources provide valuable scientific articles, patient advocacy groups, and catalog information on the condition.

Causes

Dihydrolipoamide dehydrogenase deficiency is caused by mutations in the DLD gene. This gene provides instructions for making the dihydrolipoamide dehydrogenase enzyme, which is involved in energy production.

People with dihydrolipoamide dehydrogenase deficiency have decreased amounts or non-functional dihydrolipoamide dehydrogenase enzyme. This leads to a buildup of lactic acid in the body, resulting in a condition called lactic acidosis. Lactic acidosis can cause symptoms such as nausea, vomiting, muscle cramps, and difficulty breathing.

There are several other diseases associated with DLD gene mutations, including pyruvate dehydrogenase deficiency and α-ketoglutarate dehydrogenase deficiency. These conditions are also characterized by impaired energy production and lactic acidosis.

The genetic inheritance pattern of dihydrolipoamide dehydrogenase deficiency is autosomal recessive. This means that an affected individual must inherit two copies of the mutated DLD gene, one from each parent, in order to develop the condition.

Dihydrolipoamide dehydrogenase deficiency is a relatively rare condition, with a frequency of about 1 in 100,000 births. However, its frequency may be higher in certain populations.

Additional information about the causes of dihydrolipoamide dehydrogenase deficiency, as well as genetic testing and patient advocacy resources, can be found on the OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center websites.

For more scientific articles and references on dihydrolipoamide dehydrogenase deficiency, you can search PubMed or consult the catalog of the National Center for Biotechnology Information (NCBI).

Learn more about the gene associated with Dihydrolipoamide dehydrogenase deficiency

Dihydrolipoamide dehydrogenase deficiency is a rare genetic condition that can be life-threatening if left untreated. It is caused by mutations in the DLD gene, which provides instructions for the production of an enzyme called dihydrolipoamide dehydrogenase (DLD).

DLD is involved in the breakdown of certain amino acids and fatty acids, helping to convert them into energy. In individuals with Dihydrolipoamide dehydrogenase deficiency, the DLD gene mutations result in a decreased or non-functional enzyme, leading to a buildup of toxic substances such as lactic acid and ketones.

See also  Systemic scleroderma

Testing for mutations in the DLD gene can be done to confirm a diagnosis of Dihydrolipoamide dehydrogenase deficiency. Genetic testing can also provide information about the inheritance pattern and help identify other family members who may be at risk.

There are several resources available to support patients and their families. The OMIM database provides detailed information about the DLD gene, as well as references to scientific articles about the condition. The Genetic and Rare Diseases Information Center (GARD) also offers information and resources for individuals with Dihydrolipoamide dehydrogenase deficiency.

Patients and their families may also benefit from advocacy and support groups, which provide education, emotional support, and connections to other individuals affected by Dihydrolipoamide dehydrogenase deficiency. These groups can help patients navigate the medical system and access additional resources.

Learning more about the DLD gene and Dihydrolipoamide dehydrogenase deficiency can help patients and their families understand the condition and its management. It can also provide valuable information for healthcare providers and researchers working to develop new treatments and improve patient outcomes.

References:

  1. Thöny B, Auerbach G, Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Metab Brain Dis. 2000 Dec;15(3):143-53. doi: 10.1023/a:1005484004723. PMID: 11144646.
  2. PubMed: Dihydrolipoamide dehydrogenase deficiency
  3. OMIM: Dihydrolipoamide dehydrogenase deficiency

Inheritance

Dihydrolipoamide dehydrogenase deficiency, also known as αKGDH deficiency, is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

The gene responsible for αKGDH deficiency is called the DLD gene. Mutations in this gene can cause a decreased production or activity of the enzyme dihydrolipoamide dehydrogenase, which is essential for the metabolism of pyruvate, a key molecule in energy production.

In affected individuals, the decreased enzyme activity leads to a buildup of pyruvate and other toxic substances in the body, resulting in a variety of symptoms and life-threatening episodes.

The frequency of αKGDH deficiency is currently unknown. However, it is considered to be a rare condition, with only a few hundred cases reported in the scientific literature.

The inheritance pattern of αKGDH deficiency can make it difficult for families to learn about the disease. If both parents are carriers of a DLD gene mutation, they have a 25% chance of having an affected child with each pregnancy. Genetic testing can be done to determine carrier status and the risk of having an affected child.

For additional information about αKGDH deficiency, including the associated genes, inheritance patterns, and available resources, the OMIM catalog and the Genetic and Rare Diseases Information Center (GARD) are valuable sources. These resources provide detailed articles, patient advocacy organizations, support groups, and more.

References:

  • Online Mendelian Inheritance in Man (OMIM): Dihydrolipoamide dehydrogenase deficiency
  • Genetic and Rare Diseases Information Center (GARD): Dihydrolipoamide dehydrogenase deficiency
  • PubMed: Articles on dihydrolipoamide dehydrogenase deficiency

Other Names for This Condition

  • Dihydrolipoamide dehydrogenase deficiency
  • αKGDH deficiency
  • Lipoamide dehydrogenase deficiency
  • Dihydrolipoamide dehydrogenase deficiency disease
  • Pyrus syndrome
  • Pyrus flavoenzyme deficiency
  • Pyruvate dehydrogenase complex deficiency
  • Pyrus lipoamide dehydrogenase deficiency

Dihydrolipoamide dehydrogenase deficiency, also known as αKGDH deficiency or lipoamide dehydrogenase deficiency, is a rare genetic condition associated with difficulty in energy production and the metabolism of certain amino acids. This disease is caused by mutations in the gene encoding the enzyme dihydrolipoamide dehydrogenase (DLD).

Patients with dihydrolipoamide dehydrogenase deficiency may experience episodes of acute metabolic decompensation, which can be life-threatening. These episodes are often triggered by fasting, illness, or increased physical activity. Common symptoms include vomiting, dehydration, difficulty breathing, and neurological abnormalities.

Diagnosis of DLD deficiency is based on clinical findings, such as the presence of metabolic acidosis, as well as genetic testing to confirm the presence of mutations in the DLD gene. Genetic testing can also help in identifying carrier status in family members.

There is currently no cure for dihydrolipoamide dehydrogenase deficiency, and treatment is focused on managing symptoms and preventing metabolic crises. This may involve dietary interventions, such as avoiding long periods of fasting and providing a consistent source of carbohydrates. Some patients may also benefit from the supplementation of certain vitamins and cofactors.

For more information about dihydrolipoamide dehydrogenase deficiency, you may visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes associated with this condition. You can learn more about dihydrolipoamide dehydrogenase deficiency by searching for the OMIM entry for DLD deficiency (OMIM #246900).
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles about dihydrolipoamide dehydrogenase deficiency to further expand your knowledge on this rare disease.
  • Disease Advocacy Organizations: There are several advocacy organizations that provide support and information for patients and families affected by rare genetic diseases. These organizations may offer additional resources and support networks for individuals with dihydrolipoamide dehydrogenase deficiency.
  • Genetic Testing: Genetic testing is available for the diagnosis of dihydrolipoamide dehydrogenase deficiency. Contact a genetic testing center or speak with a healthcare professional for more information on how to access genetic testing services.

Additional Information Resources

The following resources provide additional information about Dihydrolipoamide dehydrogenase deficiency and support for patients and families affected by this rare genetic disease:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides a comprehensive resource on various rare diseases, including Dihydrolipoamide dehydrogenase deficiency. You can learn more about this condition, its causes, symptoms, and available testing options on their website.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides valuable information about the DLD gene, which is associated with Dihydrolipoamide dehydrogenase deficiency. You can access scientific articles, genetic testing guidelines, and other resources related to this condition on their website.
  • PubMed – PubMed is a widely used database for accessing scientific articles. Searching for “Dihydrolipoamide dehydrogenase deficiency” in PubMed can help you find the latest research publications and clinical studies on this condition.
  • Metabolic Support UK – Metabolic Support UK is a UK-based advocacy and support organization for individuals and families affected by metabolic diseases. They offer resources, information, and support services for patients with Dihydrolipoamide dehydrogenase deficiency and other metabolic conditions.
See also  ATM gene

These resources can provide more information about the frequency and life-threatening nature of this disease, as well as the difficulties patients may face in diagnosis and treatment. They also offer support for patients and their families, helping them navigate the challenges associated with Dihydrolipoamide dehydrogenase deficiency.

Genetic Testing Information

Genetic testing is a valuable tool to diagnose the genetic cause of Dihydrolipoamide dehydrogenase deficiency. This condition is caused by mutations in the gene that codes for the enzyme dihydrolipoamide dehydrogenase (αKGDH).

The frequency of this condition is currently unknown, but it is considered to be a rare disease. Patients with Dihydrolipoamide dehydrogenase deficiency may experience a wide range of symptoms, including metabolic acid episodes, decreased production of pyruvate and αKGDH, and life-threatening metabolic episodes.

If you or someone you know is suspected to have Dihydrolipoamide dehydrogenase deficiency, genetic testing can provide valuable information about the underlying genetic cause of the disease. This information can help in making an accurate diagnosis and developing a personalized treatment plan.

Genetic testing for Dihydrolipoamide dehydrogenase deficiency can be done through a variety of methods, including gene sequencing and gene panel testing. These tests can identify mutations in the gene associated with the condition. The results of the genetic testing can be used to confirm a diagnosis and provide information about inheritance patterns and recurrence risks.

There are various resources available to learn more about genetic testing and Dihydrolipoamide dehydrogenase deficiency. Scientific articles, patient advocacy organizations, and genetic testing centers can provide additional information and resources.

Some helpful resources include:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic diseases, including Dihydrolipoamide dehydrogenase deficiency.
  • PubMed: PubMed is a database of scientific articles that can provide research and medical information about Dihydrolipoamide dehydrogenase deficiency.
  • Genetic Testing Centers: Genetic testing centers can offer information about the testing process, costs, and available tests for Dihydrolipoamide dehydrogenase deficiency.
  • Patient Advocacy Organizations: Patient advocacy organizations can provide support and resources for patients and families affected by Dihydrolipoamide dehydrogenase deficiency.

By accessing these resources and learning more about the genetic testing process and Dihydrolipoamide dehydrogenase deficiency, patients and their families can make informed decisions about their healthcare and management of the condition.

References:

  1. Thoene JG. Biochemical approaches to the diagnosis of mitochondrial disease. Metab Brain Dis. 1997;12(4):321-339.
  2. Genetic Testing for Dihydrolipoamide Dehydrogenase Deficiency. National Center for Biotechnology Information (NCBI). Available at: https://www.ncbi.nlm.nih.gov/books/NBK1331/. Accessed June 10, 2021.

Genetic and Rare Diseases Information Center

Dihydrolipoamide dehydrogenase deficiency, also known as α-ketoglutarate dehydrogenase deficiency, is a rare genetic condition that affects the production of energy in the body. It is caused by mutations in the DLD gene, which provides instructions for making the enzyme dihydrolipoamide dehydrogenase.

Individuals with this condition have decreased levels or activity of the dihydrolipoamide dehydrogenase enzyme, leading to a buildup of alpha-ketoglutaric acid and pyruvic acid. This can result in a wide range of symptoms, including developmental delays, intellectual disability, seizures, muscle weakness, and difficulty coordinating movements.

Dihydrolipoamide dehydrogenase deficiency is inherited in an autosomal recessive pattern, which means that both copies of the DLD gene in each cell have mutations. The frequency of this condition in the general population is unknown, but it is thought to be rare.

The Genetic and Rare Diseases Information Center (GARD) provides resources for patients and families affected by dihydrolipoamide dehydrogenase deficiency. On the GARD website, individuals can learn more about the disease, including its symptoms, causes, and inheritance pattern. Additional information, including scientific articles and references, can also be found on GARD.

GARD is a valuable support center for patients and families dealing with rare diseases. In addition to information, GARD provides patient advocacy and offers a catalog of other genetic and rare diseases. GARD is a reliable source for learning more about dihydrolipoamide dehydrogenase deficiency and finding support.

Testing for dihydrolipoamide dehydrogenase deficiency can be done through genetic testing to identify mutations in the DLD gene. This can help confirm a diagnosis and guide treatment decisions. Treatment for this condition typically involves managing the symptoms and providing supportive care.

Overall, dihydrolipoamide dehydrogenase deficiency is a rare and life-threatening disease with a wide range of symptoms. The Genetic and Rare Diseases Information Center (GARD) serves as a valuable resource for patients and families affected by this condition, providing information, support, and additional resources for learning more.

References:

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Dihydrolipoamide dehydrogenase deficiency, it is important to know that you are not alone. There are several patient support and advocacy resources available to help you navigate this rare genetic disease.

One of the first resources you may want to explore is the National Organization for Rare Disorders (NORD). NORD provides information and support for rare diseases, including Dihydrolipoamide dehydrogenase deficiency. They offer resources such as disease-specific information, patient support groups, and advocacy opportunities.

Another valuable resource is the Dihydrolipoamide dehydrogenase deficiency Center of Excellence. This center specializes in the diagnosis, treatment, and management of this condition. They can provide additional information and support, as well as connect you with experts in the field.

See also  17q12 deletion syndrome

Genetic testing is an important tool for diagnosing Dihydrolipoamide dehydrogenase deficiency and understanding its inheritance patterns. If you are interested in learning more about genetic testing, you can visit websites like GeneTests or OMIM. These resources provide information about testing options, genetic counseling, and the genes associated with the condition.

In addition to these resources, you may find it helpful to connect with other patients and families affected by Dihydrolipoamide dehydrogenase deficiency. Online support groups, such as those found on social media platforms or through rare disease organizations, can provide a sense of community and a place to share experiences and advice.

It is also important to stay informed about the latest research and scientific advancements related to Dihydrolipoamide dehydrogenase deficiency. PubMed is a valuable resource for finding articles, studies, and clinical trials related to this condition. By staying up-to-date with the latest information, you can better advocate for yourself or your loved one.

Remember, Dihydrolipoamide dehydrogenase deficiency can be a life-threatening condition, but with the right support and resources, you can effectively manage and live with this rare genetic disease.

Additional Resources:

  • National Organization for Rare Disorders (NORD)
  • Dihydrolipoamide dehydrogenase deficiency Center of Excellence
  • GeneTests
  • OMIM
  • PubMed

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic diseases that provides a comprehensive resource for information on various genetic conditions. The catalog includes a range of disorders, including the rare genetic disease Dihydrolipoamide dehydrogenase deficiency.

Dihydrolipoamide dehydrogenase deficiency, also known as αKGDH deficiency, is a life-threatening genetic condition that affects the production of the enzyme dihydrolipoamide dehydrogenase. This enzyme plays a crucial role in the metabolism of pyruvate and other alpha-keto acids.

Patients with Dihydrolipoamide dehydrogenase deficiency experience episodes of metabolic decompensation, often triggered by fasting, illness, or other metabolic stresses. These episodes can be severe and may result in difficulty in breathing, feeding, and altered consciousness.

The inheritance of Dihydrolipoamide dehydrogenase deficiency follows an autosomal recessive pattern, meaning that individuals must inherit two copies of the defective gene (located on chromosome 7) in order to develop the condition. Mutations in the DLD gene are responsible for this genetic disorder.

In the OMIM catalog, you can learn more about Dihydrolipoamide dehydrogenase deficiency, including information about the associated genes and their inheritance patterns. The catalog also provides additional resources and references, such as scientific articles and PubMed links, for those who want to delve deeper into this rare disease.

For patients and families affected by Dihydrolipoamide dehydrogenase deficiency, the catalog offers support and advocacy resources. This can include information on genetic testing, treatment options, and access to patient support organizations that help individuals navigate the challenges of living with this condition.

In summary, the Catalog of Genes and Diseases from OMIM provides a valuable resource for understanding rare genetic diseases such as Dihydrolipoamide dehydrogenase deficiency. It offers a wealth of information on the condition, its associated genes, and the available resources and support networks for patients and their families.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information and resources about Dihydrolipoamide Dehydrogenase Deficiency (DLDH). This genetic condition, also known as αkgDH deficiency or pyruvate dehydrogenase complex deficiency, causes a decreased production of the enzyme dihydrolipoamide dehydrogenase. It is associated with life-threatening episodes of acidosis and can lead to difficulty in common metabolic processes.

Through scientific research and advocacy, more is being learned about this condition and the genetic causes behind it. The frequency of DLDH is relatively low compared to other inherited diseases, but the impact on the patient’s life can be severe.

The OMIM database and PubMed are reliable sources for scientific articles on DLDH. These resources provide comprehensive information on the genetic basis of the disease, associated symptoms, diagnosis, and treatment options. They also offer support for patients and their families, with references to genetic testing centers and other helpful organizations.

In scientific articles found on PubMed, researchers discuss the enzyme dihydrolipoamide dehydrogenase and its role in the pyruvate dehydrogenase complex. They explore the genetic factors that contribute to the condition and the inheritance patterns associated with DLDH. Studies investigate how the deficiency of this enzyme leads to the abnormal metabolism of pyruvate, causing the episodes of acidosis.

Scientific articles on PubMed also provide information about other names for Dihydrolipoamide Dehydrogenase Deficiency, such as αkgDH deficiency or pyruvate dehydrogenase complex deficiency. This variety of names can make it more challenging for patients and their families to find relevant information. However, PubMed and OMIM serve as reliable platforms for accessing articles that cover various aspects of this condition.

In summary, scientific articles on PubMed are valuable resources for learning about Dihydrolipoamide Dehydrogenase Deficiency. They provide scientific information on the genetic basis of the disease, associated symptoms, diagnosis, and treatment options. With the support of advocacy and research, more is being understood about this condition, and these resources offer support and references for patients and their families.

References

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