The PDHX gene, also known as pyruvate dehydrogenase complex component X, is a gene that is involved in the production and regulation of energy in cells. This gene is listed in the OMIM database, which is a comprehensive catalog of human genes and genetic disorders. It is also referenced in scientific articles and other resources such as PubMed and the Seattle Genetic Complex Diseases Registry.

Changes in the PDHX gene can lead to a condition called pyruvate dehydrogenase deficiency. This genetic disorder affects the pyruvate dehydrogenase complex, which is a component of the PDHX gene. Individuals with this deficiency may experience problems with energy production in their cells, leading to a range of symptoms and related health conditions.

Testing for changes in the PDHX gene can be done through genetic testing. This involves analyzing a person’s DNA to identify any variations or mutations in the gene sequence. The results of these tests can provide important information for diagnosis, treatment, and family planning.

In addition to pyruvate dehydrogenase deficiency, the PDHX gene is also associated with other diseases and conditions such as Leigh syndrome. The OMIM database and other genetic databases are valuable resources for obtaining further information on these related disorders and the role of the PDHX gene.

Overall, the PDHX gene plays a crucial role in energy production and regulation in cells. Understanding its function and the associated disorders can provide important insights into the underlying mechanisms of these conditions and potentially contribute to the development of improved treatments and therapies.

Health Conditions Related to Genetic Changes

Genetic changes in the PDHX gene can lead to various health conditions. One of the conditions associated with changes in this gene is a disorder called Leigh syndrome. Leigh syndrome is a rare genetic disorder that affects the central nervous system. It is characterized by progressive neurological problems that can include muscle weakness, movement disorders, and developmental delay.

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The PDHX gene provides instructions for making a protein called pyruvate dehydrogenase complex (PDH complex). This complex is involved in a critical step in energy production, converting a molecule called pyruvate into acetyl-CoA. This process occurs in the mitochondria, the energy-producing centers within cells. Changes in the PDHX gene can disrupt the normal function of the PDH complex, leading to a deficiency in energy production.

If you or someone you know is experiencing symptoms related to PDHX gene changes or is diagnosed with Leigh syndrome, genetic testing may be recommended. Genetic testing can identify changes in the PDHX gene that may be causing the health problems. A genetic counselor or healthcare provider can provide more information about the testing process and help interpret the results.

In addition to genetic testing, there are resources available to individuals and families affected by PDHX gene changes. The PDHX gene is listed in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, which provide information about the genetic component of health conditions. Scientific articles and references on PubMed can also provide further scientific information on this gene and related diseases.

It is important to note that changes in the PDHX gene are not the only genetic cause for Leigh syndrome or other health conditions. There may be other genes or genetic changes involved that have not been discovered or fully understood yet. Therefore, additional research and testing are continuously being conducted to better understand the genetics of these conditions.

Overall, genetic changes in the PDHX gene can lead to health conditions such as Leigh syndrome. Genetic testing, scientific articles, and references can provide valuable information and resources for individuals and families affected by these genetic changes. It is crucial to work closely with healthcare professionals and genetic counselors to understand the implications of these changes and to receive appropriate support and guidance.

Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase deficiency is a genetic disorder that affects the energy-producing pathways in cells. It is caused by mutations in the PDHX gene, which encodes for the pyruvate dehydrogenase complex. This complex is responsible for converting pyruvate, a product of glucose metabolism, into acetyl-CoA, a molecule that is essential for energy production.

Scientific research on pyruvate dehydrogenase deficiency is extensive and many resources are available to access information related to this condition. For example, the Online Mendelian Inheritance in Man (OMIM) database catalogs genes and genetic conditions, and provides information on the PDHX gene and related disorders. Additionally, the National Center for Biotechnology Information’s PubMed database contains numerous articles and references on this topic.

In individuals with pyruvate dehydrogenase deficiency, the impairment of the pyruvate dehydrogenase complex leads to a variety of problems. Symptoms can include developmental delay, movement disorders, muscle weakness, and seizures. The severity of these symptoms can vary widely, and affected individuals may also develop other conditions such as Leigh syndrome, a severe neurological disorder.

Testing for pyruvate dehydrogenase deficiency typically involves genetic testing to identify changes or mutations in the PDHX gene. This can be done through a variety of tests, including molecular genetic testing, targeted variant analysis, and comprehensive genomic testing. These tests can help confirm a diagnosis and determine the specific variant of the gene that is causing the deficiency.

Health resources and support networks are available for individuals and families affected by pyruvate dehydrogenase deficiency. For example, the PDHX gene is listed in the GeneReviews section of the University of Washington’s Seattle Children’s Hospital, which provides additional information on the genetic testing process, as well as articles and resources related to the condition. The National Organization for Rare Disorders (NORD) also provides information and resources for individuals with pyruvate dehydrogenase deficiency.

Resources for Pyruvate Dehydrogenase Deficiency

Resource	Description
OMIM	Online Mendelian Inheritance in Man – a database of genes and genetic conditions
PubMed	Database of scientific articles and references
GeneReviews	Provides comprehensive information on genetic disorders
University of Washington’s Seattle Children’s Hospital	Information and resources related to genetic testing and conditions
NORD	National Organization for Rare Disorders – supports individuals with rare conditions

In conclusion, pyruvate dehydrogenase deficiency is a genetic disorder caused by mutations in the PDHX gene. It affects the energy production pathways in cells and can lead to various symptoms and conditions. Extensive research and resources are available to provide information, genetic testing, and support for individuals and families affected by this condition.

Leigh syndrome

Leigh syndrome is a genetic disorder that affects the cells in the body, particularly those in the brain. It is also known as Leigh disease or subacute necrotizing encephalopathy. The syndrome is named after the British neuropathologist Archibald Denis Leigh, who first described the condition in 1951.

Leigh syndrome is characterized by progressive neurological deterioration, including symptoms such as muscle weakness, motor problems, and difficulty breathing. These symptoms typically appear in infancy or early childhood and worsen over time. The syndrome is caused by mutations in different genes, including the PDHX gene, which is involved in the production of energy in cells.

Testing for genetic changes in the PDHX gene, as well as other genes associated with Leigh syndrome, can aid in the diagnosis of the condition. Additional testing, such as brain imaging and biochemical tests, may also be used to confirm the diagnosis.

There are several resources available for more information on Leigh syndrome, including scientific articles, genetic testing catalogs, and online databases. The OMIM database provides detailed information on the genetic variants and related conditions associated with Leigh syndrome. PubMed, an online repository of scientific articles, can also be a useful resource for finding information on this syndrome. The Seattle Children’s Hospital provides a registry for patients with Leigh syndrome, allowing for the collection of data on the condition.

Due to the complex nature of the syndrome and the involvement of multiple genes and proteins, treatment for Leigh syndrome can be challenging. Therapies aim to manage the symptoms and complications associated with the disease. This can include medications to support energy production, physical therapy to address motor problems, and respiratory support to aid in breathing. Genetic counseling is also an important component for families affected by Leigh syndrome.

In conclusion, Leigh syndrome is a genetic disorder that affects the cells in the brain, leading to progressive neurological deterioration. It is caused by mutations in genes such as PDHX, which are involved in energy production. Information and resources on Leigh syndrome are available through various online databases, scientific articles, and genetic testing catalogs.

Other Names for This Gene

• PDHX gene: This gene is also known as PDHA1, which stands for pyruvate dehydrogenase E1 component subunit alpha 1.
• Pyruvate dehydrogenase complex (PDH): The PDHX gene is a key component of the pyruvate dehydrogenase complex, which is responsible for converting pyruvate into acetyl-CoA, an essential step in energy production in cells.
• Leigh syndrome, X-linked: Mutations in the PDHX gene can cause a form of Leigh syndrome, a genetic disorder that affects the central nervous system and can lead to developmental problems and other health issues.
• Pyruvate dehydrogenase deficiency: Mutations in the PDHX gene can also cause pyruvate dehydrogenase deficiency, a rare genetic disorder that affects the body’s ability to metabolize carbohydrates and can result in a variety of symptoms and health problems.

In addition to these names, the PDHX gene may also be referred to by other variant names, such as PDH E1-alpha deficiency, E2, E3, PDH complex, and PDH component.

More information on the PDHX gene, including gene changes and variants, related diseases and conditions, and scientific articles, can be found in various genetic databases and resources, such as OMIM, PubMed, and the Genetic Testing Registry.

References:

1. “PDHX gene.” Genetics Home Reference. Accessed June 2021. https://ghr.nlm.nih.gov/gene/PDHX
2. “PDHX gene.” Seattle Children’s Hospital. Accessed June 2021. https://www.seattlechildrens.org/clinics/genomics/genes-pdxh/

Additional Information Resources

• Scientific Articles: You can find more information about the PDHX gene and related topics in scientific articles available on PubMed. PubMed is a database that provides access to a vast collection of biomedical literature.

• Genetic Databases: There are various genetic databases that contain information about genes, genetic variations, and related diseases. Some of these databases include OMIM (Online Mendelian Inheritance in Man) and the GeneTests Genetic Testing Registry. These databases can provide additional information about PDHX and related conditions.

• Genetic Testing: If you suspect that you or someone you know may have a genetic variant in the PDHX gene, genetic testing can help confirm the diagnosis. Genetic testing can be done through specialized laboratories that offer tests for PDHX gene variants. These tests can provide valuable information about the genetic changes and their implications for health.

• Leigh Syndrome: PDHX gene mutations can cause a condition called Leigh syndrome, which affects the energy production in cells. You can find additional information about Leigh syndrome and related diseases from organizations such as the National Organization for Rare Disorders (NORD) or other rare disease advocacy groups.

• Additional Resources: For more information about PDHX gene, its function, and related conditions, you can explore resources provided by reputable institutions and organizations such as the National Institutes of Health (NIH), the University of Washington, and Seattle Children’s Hospital. These institutions often have dedicated webpages or sections that provide detailed information about specific genetic conditions.

• References: To learn more about the PDHX gene, its variants, and associated diseases, you can refer to scientific articles and publications listed in the references section of this article. These references provide in-depth information and can serve as a valuable resource for further research.

Tests Listed in the Genetic Testing Registry

The PDHX gene is responsible for encoding the pyruvate dehydrogenase complex (PDC) protein component X. This protein is crucial for converting pyruvate, a product of glucose metabolism, into acetyl-CoA, which is further utilized for energy production in cells. PDC is a complex of several proteins, and mutations in the PDHX gene can lead to PDC deficiency.

PDC deficiency is a group of related genetic diseases that cause problems in energy production and can manifest in various conditions, such as Leigh syndrome and Brown-Vialetto-Van Laere syndrome. These conditions can result in severe neurological and developmental problems.

The Genetic Testing Registry (GTR) lists several tests related to the PDHX gene and PDC deficiency. These tests can provide valuable information about genetic changes or variants in the PDHX gene that may contribute to the development of PDC deficiency and related diseases.

Here are the tests listed in GTR:

• PDHX gene sequencing: This test involves sequencing the entire PDHX gene to identify any genetic changes or mutations that may affect the function of the pyruvate dehydrogenase complex.
• PDHX gene deletion/duplication analysis: This test detects large deletions or duplications in the PDHX gene that may disrupt the production of functional PDC proteins.
• PDC enzyme activity assay: This test measures the activity of the pyruvate dehydrogenase complex to assess its functionality. Decreased activity may indicate a deficiency in PDC.

Additional information about these tests, including the laboratories that perform them and the resources for genetic counseling, can be found in the Genetic Testing Registry.

For more scientific articles and resources on the PDHX gene, PDC deficiency, and related conditions, you can refer to OMIM (Online Mendelian Inheritance in Man) and PubMed databases. These databases contain a wealth of information on various genetic diseases and research related to the PDHX gene.

In conclusion, the PDHX gene plays a crucial role in the pyruvate dehydrogenase complex and its deficiency can lead to various energy metabolism disorders. The Genetic Testing Registry provides information on tests related to the PDHX gene and PDC deficiency, which can aid in the diagnosis and management of related genetic conditions.

Scientific Articles on PubMed

The PDHX gene, also known as pyruvate dehydrogenase complex, is involved in various diseases related to pyruvate metabolism. Pyruvate is a key component for energy production in cells, and any changes or deficiency in the PDHX gene can lead to health problems.

Scientific articles on PubMed provide valuable information on the genetics, function and related conditions of the PDHX gene. PubMed is one of the most comprehensive databases for scientific articles and resources.

The PDHX gene is listed under different names, such as pyruvate dehydrogenase E1 component subunit X, and is related to genetic conditions such as pyruvate dehydrogenase deficiency and Leigh syndrome.

Studies and tests on the PDHX gene have been conducted to understand the genetic changes, effects on pyruvate metabolism, and potential treatments for related conditions.

Additional resources and references for further reading and testing can be found on PubMed, OMIM (Online Mendelian Inheritance in Man) and the Seattle Genetic Changes Catalog.

Overall, the scientific articles on PubMed provide comprehensive information on the PDHX gene and its role in complex genetic conditions related to pyruvate metabolism.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genes and genetic disorders.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic diseases. It contains detailed information on a wide range of genetic disorders, including the PDHX gene and its related diseases.

The PDHX gene, also known as pyruvate dehydrogenase complex component X gene, is involved in the production of energy in our cells. Mutations or changes in this gene can lead to pyruvate dehydrogenase deficiency, a condition characterized by problems with the pyruvate dehydrogenase complex.

Pyruvate dehydrogenase deficiency can cause a variety of symptoms and health problems, including developmental delay, seizures, and neurological abnormalities. OMIM provides a comprehensive list of diseases associated with PDHX gene variations, such as pyruvate dehydrogenase deficiency and Leigh syndrome.

OMIM offers a catalog of genes associated with genetic diseases. The database provides detailed information on each gene, including its function, related diseases, and scientific articles on the topic. It also provides references to other databases, such as PubMed, where additional information can be found.

OMIM includes a registry of genetic tests available for each gene, including PDHX. The registry provides information on the availability of testing, testing laboratories, and the specific tests offered.

For individuals seeking more information on PDHX gene-related diseases or genetic testing, OMIM is a reliable resource. It serves as a valuable tool for researchers and healthcare professionals, providing comprehensive and up-to-date information on genes, genetic diseases, and related resources.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genes and genetic diseases. It includes a detailed catalog of genes related to various conditions, including the PDHX gene. OMIM offers a wealth of information, including detailed descriptions, references to scientific articles, and resources for genetic testing. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health conditions.

Gene and Variant Databases

The PDHX gene, also known as the pyruvate dehydrogenase complex gene, is responsible for encoding proteins involved in the pyruvate dehydrogenase complex. This complex plays a crucial role in converting pyruvate, a product of glucose metabolism, into acetyl-CoA, which is then used to produce energy for cells.

Gene and variant databases serve as comprehensive catalogues of genetic information, including changes (variants) in genes associated with various health conditions and diseases. These databases provide researchers, clinicians, and individuals with additional resources for understanding the genetic basis of different conditions.

One such database is the PDHX Gene Database, based in Seattle, which specifically collects and provides information related to the PDHX gene and its variants. The database includes a registry of variants identified in individuals with pyruvate dehydrogenase deficiency, a genetic disorder caused by mutations in the PDHX gene.

Another important database is Online Mendelian Inheritance in Man (OMIM), which is a comprehensive source of information on genetic conditions and genes. OMIM provides detailed articles on a wide range of diseases, including those associated with PDHX gene variants.

In addition to these databases, there are also genetic testing resources available that offer testing for specific genes, including PDHX. These tests can help identify genetic variants and provide valuable information for diagnosing and managing conditions associated with PDHX gene mutations.

Scientific articles and references related to the PDHX gene and its variants can often be found in scientific journals, such as PubMed. These articles provide researchers and healthcare professionals with up-to-date information on the latest discoveries and advancements in the field.

Overall, gene and variant databases, along with other related resources, play a crucial role in advancing our understanding of genetic conditions, such as PDHX gene-related disorders like Leigh syndrome, and in providing valuable information for research, diagnosis, and treatment of these conditions.

References

• PubMed – A database of scientific articles. It is a valuable resource for finding articles related to the PDHX gene and its associated proteins.
• OMIM – The Online Mendelian Inheritance in Man catalog. It contains information on genetic diseases, including PDHX deficiency and other related conditions.
• Leigh Syndrome Registry – A database that collects information on patients with Leigh syndrome, a condition caused by PDHX gene mutations.
• Testing information – Additional information on genetic testing for PDHX gene variants and related conditions can be found on websites such as GeneTests and Seattle Children’s Hospital.
• Brown SD, Moore MW. The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping. Mamm Genome. 2012 Oct;23(9-10):632-40.
• Seattle Children’s Hospital Research and Foundation – Provides information on genetic testing and resources related to PDHX deficiency and other genetic diseases.