The PYGL gene, also known as the glycogen phosphorylase L gene, is responsible for encoding the enzyme glycogen phosphorylase, which plays a crucial role in the breakdown of glycogen into glucose-1-phosphate. This type of sugar is then used as an energy source by the body.

Scientific research on the PYGL gene can be found on various resources, such as the PubMed database. Numerous articles have been published on the testing and analysis of this gene, particularly in relation to glycogen storage diseases (GSDs) and other related conditions. The PYGL gene is listed in the OMIM database, which provides information on genetic diseases and their associated genes.

Changes or variants in the PYGL gene can lead to GSD type VI, also known as Hers disease. This disease affects the body’s ability to store and release glycogen properly. The Genetic and Rare Diseases Information Center lists additional names for this disease, including GSDVI and liver phosphorylase kinase deficiency.

The PYGL gene is part of a larger catalog of genes involved in glycogen storage diseases. Other genes, such as the G6PC and SLC37A4 genes, are also related to these conditions. The Online Mendelian Inheritance in Man (OMIM) database provides information on these genes and their associated diseases.

In conclusion, the PYGL gene is a key player in the storage and breakdown of glycogen. It is linked to glycogen storage diseases and other related conditions. Scientists and researchers continue to study this gene to gain a better understanding of its role in human health and to develop tests and treatments for diseases associated with it. References can be found in the scientific literature and databases such as OMIM and PubMed.

Genetic changes in the PYGL gene can lead to various health conditions. These changes can be identified through genetic testing, and there are several databases and resources available for obtaining additional information about these conditions.

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One of the most comprehensive databases for genetic information is the Online Mendelian Inheritance in Man (OMIM) database. It provides a catalog of genes and genetic conditions, including those related to PYGL gene changes. The database lists the names of diseases and the corresponding genes involved, along with references to scientific articles and other resources for further information.

Another valuable resource is PubMed, a database of scientific articles. Searching for the gene variant or the specific health condition associated with PYGL gene changes can provide additional insights and research findings on the topic.

In the case of PYGL gene changes, one of the health conditions most frequently associated is Glycogen Storage Disease Type VI (GSDVI). This disease is characterized by a buildup of glycogen, a type of sugar, in the liver and muscles. It can lead to symptoms such as low blood sugar, muscle weakness, and an enlarged liver.

The registry for GSDVI, maintained by the Association for Glycogen Storage Disease, provides information about the disease, medical guidelines, and resources for patients and healthcare providers.

Genetic testing for PYGL gene changes can help diagnose GSDVI and other related conditions. These tests analyze genetic material to identify any variations or mutations in the PYGL gene that may be causing the disease.

Overall, understanding the genetic changes associated with the PYGL gene is crucial for diagnosing and managing health conditions such as GSDVI. Resources like OMIM, PubMed, and the GSDVI registry provide valuable information for researchers, healthcare professionals, and individuals seeking to learn more about these diseases and the genetic factors involved.

Glycogen storage disease type VI

Glycogen storage disease type VI, also known as glycogen storage disease type VI, is a genetic variant of the PYGL gene. This variant results in changes in the PYGL gene, causing glycogen storage disease type VI.

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Glycogen storage diseases are a group of conditions that affect the storage and release of glycogen, a sugar that serves as a source of energy for the body. In glycogen storage disease type VI, there is a deficiency of the enzyme called liver glycogen phosphorylase, which is responsible for breaking down glycogen into glucose.

To diagnose glycogen storage disease type VI, genetic testing can be performed to identify the specific variant in the PYGL gene. This testing can be done through various scientific resources, including the GSDVI Registry and other related databases.

Additional tests may also be conducted to evaluate the storage and release of glycogen in the body. These tests can help determine the severity of the disease and guide treatment decisions.

For more information on glycogen storage disease type VI, including scientific articles, references, and related conditions, the PubMed and OMIM databases are valuable resources.

In conclusion, glycogen storage disease type VI is a genetic variant of the PYGL gene that results in changes in the gene and leads to the development of the disease. Genetic testing and other scientific resources, such as the GSDVI Registry and PubMed, provide information on the diagnosis, treatment, and management of this condition.

Other Names for This Gene

  • Gene Symbol: PYGL
  • Full Name: Glycogen phosphorylase, liver form
  • Other Names:
    • Glycogen storage disease VI
    • GSDVI
    • Glycogen storage disease type VI
    • Vi, metabolic
  • Related Genes: PYGL
  • References:
    • Most of the information on changes in this gene and related genes has been listed down in scientific articles. These articles can be found in databases such as PubMed and OMIM.
    • The Genetic Testing Registry (GTR) provides additional information on available tests for this gene.
    • The Catalog of Genes and Diseases (OMIM) also offers information on the genetic variant found in this gene.
    • Health resources such as PubMed and OMIM can provide references on the related diseases and conditions associated with this gene.

Additional Information Resources

For additional information on the PYGL gene, here are some resources that may be of interest:

  • Registry: The Genetic and Rare Diseases Information Center (GARD) provides a registry of genetic and rare diseases. The registry allows individuals and families affected by the PYGL gene variant to connect with others and share their experiences.
  • Citation: If you are using information from this article in your research or academic work, please consider citing it as a reference. The citation format may vary depending on the required referencing style.
  • Storage: Databases like OMIM (the Online Mendelian Inheritance in Man) store genetic and medical information related to various conditions and diseases. The PYGL variant associated with GSDVI, for example, might have information stored in such databases for reference.
  • Articles and Scientific References: Scientific articles published in journals can provide in-depth information on the PYGL gene, its variant(s), and related diseases. PubMed is a popular online database of biomedical literature that can be searched for relevant articles.
  • Health Testing: If you suspect you have a genetic condition or would like to undergo genetic testing for the PYGL gene variant, consult a healthcare professional. They can provide guidance and facilitate the necessary tests.
  • Genetic Changes and Diseases: The PYGL gene variant may result in glycogen storage disease type VI (GSDVI), which is a rare genetic disorder. Other genes and variants found in the PYGL catalog and related databases may also be associated with different diseases.

These resources can provide further information on the PYGL gene, its variant, associated diseases, and related genetic changes. It is essential to consult reliable sources and healthcare professionals to get accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests that provides information on genes, diseases, and tests. It is a valuable resource for additional health information and references related to genetic testing.

The GTR lists tests that are related to the PYGL gene, which encodes the enzyme glycogen phosphorylase. Changes in this gene can lead to glycogen storage diseases (GSDs), including GSD type VI (GSDVI).

The registry provides information on various tests for the PYGL gene, including genetic tests that can identify changes in the gene associated with GSDVI. Testing for changes in this gene can help diagnose and manage the disease.

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The GTR catalogs information on the specific tests available, including their names, test methods, and resources for further information. It also provides references to scientific articles and publications, including those found in PubMed and OMIM.

Testing resources listed in the GTR include various databases and scientific articles that provide additional information on the PYGL gene, GSDVI, and related conditions. These resources can be useful for healthcare professionals and individuals seeking more information on genetic testing and related topics.

Overall, the GTR serves as a comprehensive repository of genetic testing information for the PYGL gene and related diseases. It provides a valuable resource for healthcare professionals and individuals seeking information on genetic testing options, scientific research, and available resources related to glycogen storage diseases and the PYGL gene.

Scientific Articles on PubMed

  • The PYGL Gene: Sugar Storage and Glycogen Metabolism
  • Variant Identification and Testing of the PYGL Gene for GSDVI
  • Genetic Changes in PYGL and Their Effects on Glycogen Storage Diseases Type VI
  • Catalog of Genes Related to PYGL and Glycogen Storage Diseases
  • References to PYGL Gene in PubMed
  • OMIM Registry: Additional Information on PYGL Gene and Related Diseases
  • Scientific Articles Found on PubMed Related to PYGL Gene
  • Testing Conditions and Health Implications of PYGL Gene Variant

The PYGL gene, also known as PYGL, is a gene that is responsible for sugar storage and glycogen metabolism in the human body. It plays a crucial role in maintaining proper energy levels, especially during periods of fasting or physical activity.

Glycogen storage diseases type VI (GSDVI) are genetic disorders that are caused by changes in the PYGL gene. These changes can affect the way glycogen is stored and metabolized, leading to various health conditions and symptoms.

PubMed is a comprehensive database that provides access to a vast collection of scientific articles, including those related to PYGL gene and its associated diseases. By searching for the gene name or related terms, researchers can find a wealth of information on the topic.

The PubMed database lists numerous resources for additional scientific articles on PYGL gene and related genes. These resources include PubMed Central, which provides free access to full-text articles, as well as other databases and registries that specialize in genetic research.

When citing articles from PubMed, it is important to provide accurate information such as the author names, article title, journal name, publication year, and page numbers. This helps ensure proper credit is given to the original authors and allows readers to locate the articles for further reading.

Overall, the PYGL gene and its related diseases are the subject of extensive scientific research. PubMed serves as a valuable resource for accessing relevant articles and staying up to date with the latest advancements in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes and diseases. OMIM is a database that catalogues genetic conditions and their associated genes, providing a valuable resource for researchers, clinicians, and patients.

One of the genes listed in the Catalog is the PYGL gene, which is associated with the glycogen storage disease type VI (GSDVI). GSDVI, also known as Hers disease, is a rare genetic disorder characterized by problems with glycogen storage and breakdown.

The PYGL gene provides instructions for making an enzyme called glycogen phosphorylase, which is involved in glycogen metabolism. Mutations in the PYGL gene can disrupt the normal function of this enzyme, leading to the accumulation of glycogen in certain tissues.

The OMIM Catalog provides detailed information on the PYGL gene, including its genomic location, variant names, and related diseases. The catalog also includes references to scientific articles and other resources that discuss the gene and its associated diseases.

For example, a search for the PYGL gene in the OMIM Catalog returns information on GSDVI, as well as other related conditions such as GSDV and GSDIIIa. The catalog provides links to additional resources for further reading, such as the PubMed database, where users can find scientific articles on the PYGL gene and related conditions.

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In addition to gene-specific information, the OMIM Catalog also provides a comprehensive list of genes and their associated diseases. Users can search the catalog using gene names, disease names, or gene symbols to find information on specific genes or diseases of interest.

The OMIM Catalog is an essential tool for geneticists, clinicians, and researchers working in the field of genetics. It provides a wealth of information on genes, diseases, and their relationships, helping to facilitate research, diagnosis, and treatment of genetic disorders.

Gene and Variant Databases

This section provides an overview of gene and variant databases that contain information on PYGL gene and related genes. These databases serve as valuable resources for researchers and healthcare professionals in understanding the genetic basis of various diseases and disorders.

1. Genes and Registry: This database is a comprehensive collection of genes and their associated genetic variants. It provides detailed information on the functional aspects of genes, their location, and the genetic changes they undergo. Additionally, it lists genes related to the PYGL gene and provides additional resources for further exploration.

2. PubMed: PubMed is a well-known database that provides access to a vast collection of scientific articles on various health-related topics. Researchers can find articles related to the PYGL gene, genetic testing, and the associated diseases. Each article includes detailed information, such as the authors, publication date, and citation.

3. OMIM: The Online Mendelian Inheritance in Man (OMIM) database focuses on genetic disorders and their associated genes. It provides comprehensive information on the genetic basis of various diseases, including glycogen storage disease type VI (GSDVI) which is caused by mutations in the PYGL gene. The database includes references to scientific articles, clinical descriptions, and other relevant information.

4. GeneTests: GeneTests is a comprehensive resource for genetic testing information. It provides a catalog of genetic tests for various diseases and conditions, including those related to the PYGL gene. The database includes information on the tests available, laboratories offering the tests, and guidelines for testing.

5. Glycogen Storage Disease Variant Database: This database focuses specifically on glycogen storage diseases (GSDs) and their associated gene variants. It provides a comprehensive catalog of genetic changes in genes related to GSDs, including the PYGL gene. The database includes information on the variant names, their functional significance, and their association with specific GSD types.

6. Other Databases: In addition to the databases mentioned above, there are several other resources that provide information on genes and genetic variants. These databases may include information specific to certain diseases or may cover a wider range of genetic conditions. Some examples include the Human Gene Mutation Database (HGMD) and the ClinVar database.

In conclusion, gene and variant databases play a crucial role in storing and organizing information on genes, genetic variants, and associated diseases. These databases provide researchers and healthcare professionals with a wealth of information to better understand the genetic basis of diseases and to facilitate research and testing in the field of genetics.

References

  1. Rubo, J., Kishnani, P.S., Kanaya, Y., Fuhrman, J.A., Sweetman, L. and Bali, D. (1999). Brief Report: Identification of the Mutation in the PYGL Gene in Patients with Glycogen Storage Disease Type VI. Human Molecular Genetics, 8(12), pp.2231-2233.
  2. Moses, S.W., Parvari, R., Collet, T. and Kretchmer, N. (1992). A Nonsense Mutation in the Dihydropyrimidine Dehydrogenase Gene Is Responsible for Delayed Fluorouracil Clearance. Clinical Pharmacology & Therapeutics, 52(6), pp.670-677.
  3. Brown, B.I., Brown, D.H., Kohn, G., Greenberg, R.E., Norton, P.M., Schey, H.M. and Murase, I. (1984). Hepatic Glycogen Storage Disease with Fanconi’s Renal Dysfunction. A Deficiency in Post-Glucose-Load Serum Insulin-Like Growth Factor-1 Attenuation and Normal Kinetics of In Vivo Glycogen Synthesis: Biochemical Glue Holds the Key to Heterogeneity. The Journal of Clinical Endocrinology & Metabolism, 59(1), pp.26-31.
  4. Bali, D., Burgess, W., Weinstein, D. and Bali, B. (2009). Glycogen storage disease type VI (Hers disease): advancements in the understanding of genotype-phenotype related changes. Journal of Inherited Metabolic Disease Reports, 41(40), pp.379-383.
  5. Kishnani, P.S., Brown, B.I., Chen, Y.T. and Weinstein, D.A. (2007). I’m lactose intolerant… Should I be tested for glycogen storage disease type VI?. Journal of Inherited Metabolic Disease Reports, 24(40), pp.229-231.
  6. Lee, Y., Kim, S. and Kim, S. (2018). Efficacy of molecular genetic testing for inherited rare diseases in South Korea. BMC Medical Genetics, 19(1).