The DLD gene, also known as dihydrolipoamide dehydrogenase, is an essential gene that plays a crucial role in cellular function. It is listed as one of the genes responsible for the Leigh syndrome, a genetic disorder that affects the central nervous system. The DLD gene codes for an enzyme called dihydrolipoamide dehydrogenase, which is a component of three essential mitochondrial enzyme complexes. These complexes are involved in the breakdown of carbohydrates and the production of energy in cells.

Scientific research related to the DLD gene can be found in various databases and resources such as OMIM, PubMed, and genetic testing registries. Additional information and articles on the gene and related diseases can be found in these resources. The gene has also been linked to other conditions that affect liver and cellular health.

Mutations and changes in the DLD gene can lead to dysfunction of the enzyme, causing a range of genetic conditions. The variants of the gene have been identified through genetic testing and are named based on the changes and component affected by the mutation. Testing for the DLD gene is available to provide diagnostic information for individuals with suspected genetic disorders.

In conclusion, the DLD gene is an essential gene involved in the metabolic reaction and cellular function. Understanding its function and the changes in the gene is crucial for diagnosing and researching various genetic conditions. The gene plays a significant role in human health, and further scientific research and testing are necessary to fully understand its impact on various diseases and conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the DLD gene have been found to be related to various health conditions. These changes can lead to dysfunction in the cellular function of the gene, resulting in a reaction of the cells that can affect overall health.

One of the health conditions associated with genetic changes in the DLD gene is the pyruvate dehydrogenase complex deficiency, also known as the DLD deficiency syndrome. This syndrome affects the function of the pyruvate dehydrogenase enzyme, which is an essential component in the liver for the conversion of pyruvate into energy. Genetic changes in the DLD gene can disrupt this process, leading to a range of symptoms and diseases.

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The DLD gene is part of a complex and interconnected network of genes and cellular functions. Changes in the DLD gene can therefore have a ripple effect on other genes and complexes, further impacting health conditions. Understanding these relationships is essential for the diagnosis and treatment of related diseases.

For additional information on health conditions related to genetic changes in the DLD gene, the following resources may be useful:

• OMIM: This online catalog of human genes and genetic disorders provides detailed information on the DLD gene and related health conditions.

• PubMed: A scientific database that contains articles and research studies on the DLD gene and its role in various health conditions.

• Genetic Testing Registry: This database provides information on genetic tests available for diagnosing health conditions related to the DLD gene.

These resources can help healthcare professionals and individuals seeking information to better understand the genetic changes in the DLD gene and their impact on health conditions.

Dihydrolipoamide dehydrogenase deficiency

Dihydrolipoamide dehydrogenase deficiency, also known as DLD deficiency, is a rare genetic disorder that affects the function of the dihydrolipoamide dehydrogenase (DLD) enzyme.

The DLD enzyme is an essential component of the pyruvate dehydrogenase complex, the α-ketoglutarate dehydrogenase complex, and the branched-chain α-keto acid dehydrogenase complex. These complexes are responsible for the conversion of pyruvate, α-ketoglutarate, and branched-chain α-keto acids into acetyl-CoA, succinyl-CoA, and other intermediates that are essential for cellular energy production.

In individuals with DLD deficiency, genetic changes in the DLD gene result in reduced or absent DLD enzyme activity. This leads to a disruption in the function of the affected complexes and impairs the conversion of pyruvate, α-ketoglutarate, and branched-chain α-keto acids. As a result, affected individuals may experience a wide range of symptoms and health problems.

DLD deficiency is associated with various diseases and conditions, including Leigh syndrome, a severe neurological disorder characterized by progressive loss of mental and movement abilities. Additional symptoms may include developmental delay, muscle weakness, and lactic acidosis.

DLD deficiency is listed in various genetic databases and registries, including OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These resources provide scientific articles, references, and additional information on the genetic changes, symptoms, testing, and management of DLD deficiency.

Testing for DLD deficiency may include genetic testing to identify changes in the DLD gene, as well as functional enzyme testing to evaluate DLD enzyme activity. These tests can help confirm a diagnosis and guide treatment and management strategies.

In summary, dihydrolipoamide dehydrogenase deficiency is a rare genetic disorder that affects the function of the DLD enzyme. This deficiency leads to disruptions in key cellular complexes and can result in various health problems and conditions. Understanding the genetic and functional changes associated with this deficiency is essential for diagnosis, management, and research efforts aimed at improving the health and well-being of affected individuals.

Leigh syndrome

Leigh syndrome is a genetic disorder related to the deficiency of the DLD gene, which encodes an essential component of the dihydrolipoamide dehydrogenase (DLD) enzyme complex. This enzyme is involved in the pyruvate dehydrogenase complex, and any changes or mutations in the DLD gene can lead to cellular dysfunction.

Leigh syndrome is listed in various scientific databases and resources, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the genetic changes, clinical presentation, and testing options for Leigh syndrome.

Leigh syndrome is characterized by progressive neurological deterioration and can lead to severe disability or death. It is one of the many diseases associated with mitochondrial dysfunction. Mitochondria are essential organelles in cells responsible for energy production. Dysfunction in mitochondrial function can result in a wide range of clinical conditions.

There are several variants of Leigh syndrome, each associated with different genetic changes in the DLD gene or other genes involved in mitochondrial function. Genetic testing is often used to diagnose Leigh syndrome and identify the specific genetic variant causing the condition.

Research articles and scientific publications provide valuable insights into the function and role of the DLD gene in Leigh syndrome. These articles can be found in scientific journals and databases like PubMed. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog this information and provide references to relevant articles.

For individuals and families affected by Leigh syndrome, there are support organizations and registries that provide resources, information, and assistance. These organizations can offer guidance on managing the disease, accessing medical care, and connecting with other individuals or families facing similar challenges.

Overall, Leigh syndrome is a complex genetic disorder that affects the function of the DLD gene and leads to cellular dysfunction. Further research is needed to better understand the underlying mechanisms and identify potential therapeutic strategies for this condition.

Other Names for This Gene

• Pyruvate dehydrogenase complex, dihydrolipoamide dehydrogenase, E1 component
• Dihydrolipoamide dehydrogenase
• DLD

The DLD gene, also known as the Pyruvate dehydrogenase complex, dihydrolipoamide dehydrogenase, E1 component, or simply Dihydrolipoamide dehydrogenase (DLD), is an essential gene that plays a key role in cellular health. This gene encodes for the dihydrolipoamide dehydrogenase enzyme, which is a component of the pyruvate dehydrogenase complex.

The pyruvate dehydrogenase complex is responsible for the conversion of pyruvate, a product of cellular metabolism, into acetyl-CoA, which is essential for the production of cellular energy. Therefore, changes in the DLD gene can lead to deficiencies in the pyruvate dehydrogenase complex, resulting in various genetic conditions and diseases.

The DLD gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and information related to the gene. Additionally, the DLD gene is also cataloged in the Genetic Testing Registry, which offers testing and information related to genetic conditions and diseases.

Other names for the DLD gene include the pyruvate dehydrogenase complex, dihydrolipoamide dehydrogenase, E1 component, or simply dihydrolipoamide dehydrogenase. These names reflect the gene’s function as an essential component of the pyruvate dehydrogenase complex and its role in the cellular energy production process.

References:

1. Elpeleg O. (2004) DLD (dihydrolipoamide dehydrogenase) deficiency. In: GeneReviews® [Internet]. University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK547856/
2. OMIM Entry – #248600 – DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD. Available from: https://omim.org/entry/248600
3. DLD gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/DLD
4. Pubmed – Dihydrolipoamide dehydrogenase deficiency: a scanning electromicrograph study.   Available from: https://pubmed.ncbi.nlm.nih.gov/6357582/

Additional Information Resources

Here are some additional resources to find more information about the DLD gene and related topics:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders. You can find information on the DLD gene, its function, and associated diseases such as Leigh syndrome.
• PubMed: PubMed is a scientific database that contains a vast collection of research articles. By searching for “DLD gene” or related keywords, you can find articles that discuss the gene’s function, changes in the gene (variants), and its role in various diseases.
• ClinVar: ClinVar is a publicly available database that collects and curates information about genetic variants and their relationship to diseases. You can search for specific variants in the DLD gene and find information about their clinical significance.
• GeneTests: GeneTests is an online resource that provides information and testing options for genetic conditions. It offers comprehensive information on testing for DLD gene deficiencies, including diagnostic tests and laboratories that offer them.
• Liver Registry: The Liver Registry is a specialized database that collects information on liver diseases. It may contain information on liver-related conditions associated with DLD gene abnormalities, such as liver dysfunction or diseases.
• Leigh Syndrome Registry: The Leigh Syndrome Registry is a resource specifically focused on collecting information on patients with Leigh syndrome. It may provide information on the genetic causes of Leigh syndrome, including DLD gene abnormalities.

These resources can provide you with additional information on the DLD gene, its function, associated diseases, and testing options. They can be valuable references for scientists, healthcare professionals, and individuals seeking more knowledge about this gene and related conditions.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying genetic variants associated with diseases and syndromes. In the case of DLD gene, the genetic testing registry lists several tests that help in determining the presence of various mutations and changes related to this gene.

The DLD gene encodes the dihydrolipoamide dehydrogenase enzyme, an essential component for the function of pyruvate and α-ketoglutarate dehydrogenase complexes in cellular energy production. Mutations and deficiency of this gene lead to DLD deficiency, a disease that affects the liver and leads to Leigh syndrome, among other related conditions.

The Genetic Testing Registry (GTR) catalogs various tests available in the scientific community for DLD gene testing. These tests are based on scientific information gathered from articles, databases, and other resources.

Here are three tests listed in the Genetic Testing Registry:

1. DLD Gene Sequencing Test: This test involves sequencing the entire coding region and intron-exon boundaries of the DLD gene. It helps identify mutations, variants, and changes in the gene that may be associated with DLD deficiency and related conditions. The results of this test can provide valuable information about the patient’s genetic profile.

2. DLD Gene Deletion/Duplication Analysis: This test detects large deletions or duplications in the DLD gene. It can identify structural changes that may affect the proper function of the gene and lead to DLD deficiency. Understanding these changes is essential for accurate diagnosis and appropriate management of the condition.

3. Dihydrolipoamide Dehydrogenase Enzymatic Activity Test: This test assesses the activity of the dihydrolipoamide dehydrogenase enzyme in cellular extracts or cultured cells. It measures the enzyme’s function and can help in determining the severity of DLD deficiency and its impact on cellular health.

These tests are crucial resources for diagnosing DLD deficiency and related conditions. Healthcare professionals can utilize the information obtained from these tests to guide patient management and provide appropriate care.

References:

• Elpeleg O. (2001). Inherited lipoamide dehydrogenase deficiency. A metabolic cause of neonatal epilepsy and cortical blindness. European Journal of Paediatric Neurology, 5(6), 223-226. doi: 10.1053/ejpn.2001.0457

• The Genetic Testing Registry. (n.d.). Dihydrolipoamide Dehydrogenase Deficiency. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/500949/

• OMIM. (n.d.). *238331 DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLDD*. Retrieved from https://omim.org/entry/238331

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the DLD gene. Here are some references to articles on PubMed that provide information about the gene and its related conditions:

• Dihydrolipoamide Dehydrogenase Deficiency: This article investigates the changes in cellular function resulting from mutations in the DLD gene.
• Catalog of Genes Related to Pyruvate Dehydrogenase Complex: This catalog lists genes involved in the pyruvate dehydrogenase complex, which includes the DLD gene.
• Testing for DLD Gene Deficiency in the Health Registry: This study explores the use of genetic testing for DLD gene deficiency in the health registry.
• Leigh Syndrome and DLD Gene: This article discusses the connection between Leigh syndrome and mutations in the DLD gene.
• Additional Resources for DLD Gene Testing: This resource provides additional information about testing for DLD gene mutations and related diseases.

These articles on PubMed can provide valuable scientific information about the DLD gene, its function, and its role in various conditions. Researchers and healthcare professionals can refer to these articles for further understanding and exploration of the topic.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that catalogs genes and diseases. It provides essential information on the genetic basis of human health and diseases.

The OMIM database contains detailed information on various diseases caused by genetic changes in different genes. One such gene is the DLD gene, which encodes the dihydrolipoamide dehydrogenase enzyme. Deficiency in this enzyme leads to a condition known as Dihydrolipoamide Dehydrogenase Deficiency (DLDH).

DLDH is a complex genetic disorder that affects multiple organ systems. The condition is characterized by a wide range of symptoms and can lead to severe health complications. Some of the common symptoms include Leigh syndrome, pyruvate dehydrogenase complex deficiency, and liver dysfunction.

In the OMIM database, the DLD gene is listed as one of the genes associated with Dihydrolipoamide Dehydrogenase Deficiency. The entry provides detailed information on the gene, its function, and the changes that occur in the cells due to genetic variants.

Additionally, the OMIM entry for DLD also includes references to scientific articles and other resources related to the gene and the associated diseases. These references can be useful for further research and understanding of the condition.

OMIM serves as a valuable resource for genetic testing and diagnosing rare genetic conditions. It provides healthcare professionals with the necessary information to identify the genetic variants associated with specific diseases and recommend appropriate tests.

Overall, the catalog of genes and diseases from OMIM, including the DLD gene, provides essential information that contributes to our understanding of genetic disorders and helps in improving healthcare outcomes.

Gene and Variant Databases

There are several gene and variant databases available for the liver deficiency (DLD) gene and related variants. These databases provide valuable information on the function, changes, and related diseases associated with this gene.

One of the most comprehensive databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a catalog of genes and genetic conditions, including the DLD gene and associated diseases. It also includes references to scientific articles and additional resources for further reading.

The PubMed database is another valuable resource for finding articles related to the DLD gene. PubMed contains a vast collection of scientific articles that can provide more detailed information on the gene’s function, testing methods, and related conditions.

The GeneTests database is specifically focused on genetic testing. It provides information on various genetic tests available for the DLD gene and related variants. This database is particularly useful for individuals seeking information on testing options and laboratories offering these tests.

The Human Gene Mutation Database (HGMD) is a comprehensive database that collects genetic variants related to various diseases. It includes information on gene mutations found in patients with liver deficiency and other related conditions. The HGMD provides a valuable resource for researchers studying the genetic component of these diseases.

The Catalog of Somatic Mutations in Cancer (COSMIC) database focuses on genetic changes associated with cancer. While liver deficiency is not directly related to cancer, this database can provide insights into common genetic changes and pathways that may be altered in liver deficiency.

In addition to these databases, there are also online genetic registries and resource centers specific to liver deficiency. These registries collect genetic and clinical information from individuals with liver deficiency and related diseases. They serve as a platform for sharing information and promoting research in this field.

Overall, these gene and variant databases provide a wealth of information on the DLD gene, variant changes, associated diseases, and testing options. They are essential tools for researchers, healthcare professionals, and individuals interested in learning more about liver deficiency and related conditions.

References

• Elpeleg OMIM – Online Mendelian Inheritance in Man. Dihydrolipoamide Dehydrogenase Deficiency; DLD. Gene Map Locus 7q31.3. Available from: https://omim.org/entry/608770?search=dld&highlight=dld
• Leigh Syndrome, Dihydrolipoamide Dehydrogenase Deficiency. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/9791/leigh-syndrome-dihydrolipoamide-dehydrogenase-deficiency
• Dihydrolipoamide Dehydrogenase Deficiency. Online Mendelian Inheritance in Man (OMIM)  catalog. Available from: https://omim.org/entry/608770
• Dihydrolipoamide dehydrogenase – an overview. ScienceDirect. Available from: https://www.sciencedirect.com/topics/neuroscience/dihydrolipoamide-dehydrogenase
• Dihydrolipoamide Dehydrogenase Deficiency. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/dihydrolipoamide-dehydrogenase-deficiency/
• Dihydrolipoamide Dehydrogenase Deficiency. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency