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AGL gene

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

The AGL gene, also known as the glycogen debranching enzyme gene, is responsible for encoding a protein called glycogen debranching enzyme. This gene plays a crucial role in the breakdown and metabolism of glycogen, a molecule that serves as a storage form of glucose in the body.

Mutations in the AGL gene can result in a glycogen storage disease type III (GSDIII), also known as Cori disease or Forbes disease. GSDIII is a genetic disorder characterized by the buildup of abnormal glycogen deposits in various tissues and organs, leading to a wide range of symptoms and complications.

Several articles and publications related to the AGL gene can be found in scientific databases such as PubMed, OMIM, and Epub. These resources provide comprehensive information on the gene, its variants, associated diseases, and additional genetic changes that may impact health.

Genetic testing is available to identify mutations in the AGL gene and confirm a diagnosis of GSDIII. This testing can be done through various laboratories and genetic testing services listed in the Genetic Testing Registry.

Further research on the AGL gene and glycogen metabolism may shed light on potential treatments and interventions for GSDIII and other related conditions and diseases. The AGL gene is just one of many genes involved in glycogen storage and metabolism, and understanding its role can provide valuable insights into overall human health.

Genetic changes in the AGL gene can lead to various health conditions. One of the main health conditions associated with genetic changes in the AGL gene is Glycogen Storage Disease Type III (GSDIII).

GSDIII is a genetic disorder that affects the way glycogen is stored in the body. It is caused by mutations in the AGL gene and is inherited in an autosomal recessive manner. The AGL gene provides instructions for making an enzyme called glycogen debranching enzyme, which is responsible for breaking down glycogen into glucose.

Individuals with genetic changes in the AGL gene may have reduced or absent activity of glycogen debranching enzyme, leading to the accumulation of abnormal glycogen in the body. This can cause a range of symptoms and complications, including hepatomegaly (enlarged liver), hypoglycemia (low blood sugar), muscle weakness, and growth delay.

There are different types of GSDIII, depending on the severity and age of onset. GSDIIIa is the most common and severe form, which is typically diagnosed in infancy or early childhood. GSDIIIb is a milder form that may not become apparent until adulthood.

In addition to GSDIII, genetic changes in the AGL gene have also been associated with other health conditions. These include amylo-1,6-glucosidase deficiency (AGSD), different types of glycogen storage disease (GSD), and other metabolic disorders.

To explore more information about the health conditions related to genetic changes in the AGL gene, you can refer to scientific articles and databases such as PubMed. These resources provide a wealth of information, including references to articles, genetic changes, disease names, and testing options.

For example, a search in the PubMed database using keywords like “AGL gene” and “GSDIII” will list several articles and references related to this specific health condition. You can also find additional information and resources from genetic testing companies and disease registries.

It’s important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing options, and management of health conditions related to genetic changes in the AGL gene.

Glycogen storage disease type III

Glycogen storage disease type III (GSDIII), also known as glycogen debranching enzyme deficiency, is a genetic condition that affects how glycogen is stored and broken down in the body. This disease is caused by changes (variants) in the AGL gene. The AGL gene provides instructions for making an enzyme called glycogen debranching enzyme, which is responsible for breaking down glycogen into glucose for energy.

Individuals with GSDIII have a reduced or absent activity of the glycogen debranching enzyme, resulting in abnormal glycogen storage. This leads to the accumulation of abnormal glycogen molecules in various tissues, particularly the liver and muscles. Over time, this buildup can cause a range of symptoms and complications.

Some common symptoms of GSDIII include enlargement of the liver and spleen, low blood sugar levels, muscle weakness, delayed growth, and short stature. The severity and specific symptoms vary greatly among affected individuals, even within the same family.

Diagnosis of GSDIII can be confirmed through genetic testing. Genetic testing analyzes a person’s DNA to identify changes in the AGL gene. This testing can be done through different genetic testing laboratories or as part of a research study or registry.

Additional tests may be performed to evaluate liver and muscle functions, as well as to measure glycogen levels in the liver, muscles, and/or blood. Consultation with a geneticist, genetic counselor, or other healthcare professionals specializing in metabolic diseases is recommended for diagnosis and management.

There is currently no cure for GSDIII, but several treatment options are available to manage the symptoms and complications. These may include a specialized diet, frequent meals to avoid low blood sugar, physical therapy to maintain muscle strength, and regular monitoring of liver function.

For additional information on GSDIII, glycogen storage diseases, and related conditions, the following resources may be helpful:

  • Genetic and Rare Diseases Information Center: Provides information on GSDIII and other genetic and rare diseases. Visit https://rarediseases.info.nih.gov/diseases/4761/glycogen-storage-disease-type-iii.
  • PubMed: Offers a wide range of scientific articles and research papers on GSDIII and related topics. Visit https://pubmed.ncbi.nlm.nih.gov/.
  • GeneReviews: Provides in-depth information on genes, genetic conditions, and related topics. Visit https://www.ncbi.nlm.nih.gov/books/NBK26371/.
  • Online Mendelian Inheritance in Man (OMIM): Offers a comprehensive catalog of human genes and genetic disorders. Visit https://www.omim.org/.
  • Epub ahead of print articles: Up-to-date scientific articles on GSDIII and related research can be found through various scientific journals and publications.
  • Glycogen Storage Disease Type III Registry: A registry of individuals with GSDIII, which may provide additional information and support. Contact the GSDIII Registry for more information.

Other Names for This Gene

  • AGL gene
  • Glycogen debranching enzyme gene
  • Glycogen storage disease type III gene
  • GSDIII gene
  • Limit dextrinosis glycogenosis gene
See also  KCNA1 gene

In addition to the AGL gene, this gene is known by several other names, reflecting different aspects of its function and its related genetic diseases. The AGL gene codes for the enzyme glycogen debranching enzyme, which plays a crucial role in the breakdown and storage of glycogen, a form of energy storage in the body.

Glycogen storage disease type III (GSDIII), also known as limit dextrinosis or glycogenosis type III, is a genetic disorder caused by changes in the AGL gene. This disease affects the body’s ability to properly break down and store glycogen, leading to a variety of health conditions.

Information on the AGL gene and its related diseases can be found in scientific databases and resources, such as OMIM, PubMed, and various genetic testing catalogs. These resources contain articles, references, and genetic testing information for AGL gene variant testing and other related genes involved in glycogen storage diseases.

Additional Information Resources

There are several additional resources that provide further information on the AGL gene and related conditions. These resources include scientific articles, databases, and registries that focus on genetic diseases. Below are some of the key resources:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the AGL gene and related conditions, including glycogen storage disease type III (GSDIII).
  • PubMed: PubMed is a database of scientific articles. It contains a wealth of information on genetic diseases, including GSDIII and the AGL gene. Searching for specific keywords such as “AGL gene” or “glycogen storage disease type III” will provide a list of relevant articles.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It provides information on available genetic tests for different diseases, including GSDIII. The GTR can help individuals and healthcare providers find testing options and laboratories offering genetic testing for GSDIII.
  • GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed articles on genetic diseases. It offers a comprehensive overview of various genetic conditions, including GSDIII. The GeneReviews article on GSDIII offers detailed information on the AGL gene, its variant types, and the diagnostic testing methods available.
  • Publications from Dr. Okubo and colleagues: Dr. Okubo and colleagues have published several research articles on GSDIII and the AGL gene. These articles can provide additional insights into the gene, its role in disease development, and potential treatment approaches.
  • Health conditions related to GSDIII: In addition to GSDIII, the AGL gene may be associated with other health conditions. Further information on these conditions can be found through the resources mentioned above or by searching for the specific disease name.

These resources offer a wealth of information on the AGL gene, GSDIII, and related genetic diseases. They provide valuable references for further research and can help individuals and healthcare providers access the latest knowledge on these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information on different types of genetic tests. It is a scientific resource where data related to genetic changes, genes, and diseases are stored for health professionals and researchers.

In the context of the AGL gene, the GTR lists several tests for the glycogen storage disease type III (GSDIII). These tests aim to detect variant changes in the AGL gene and provide information about the presence of this genetic disease.

The GTR also provides references to additional resources such as PubMed and OMIM databases. These resources contain articles and information related to the genetic testing and management of GSDIII and other related conditions.

It is important to note that the GTR catalog may include tests from different laboratories, and the availability of tests may vary. Health professionals should consult the GTR and relevant scientific resources for up-to-date information on the testing options for GSDIII and related diseases.

Scientific Articles on PubMed

PubMed is a well-known resource for accessing scientific articles and information related to various diseases and genetic conditions. In the case of AGL gene and glycogen storage disease III (GSDIII), several articles can be found in PubMed that provide valuable insights and up-to-date information on the disease.

One of the articles related to GSDIII is titled “Glycogen Storage Disease Type III: Genetic and Clinical Characteristics” by Okubo et al. This article discusses the genetic characteristics of GSDIII and provides an overview of the clinical manifestations of the disease.

In addition to scientific articles, PubMed also provides access to references from other databases and resources. For example, OMIM (Online Mendelian Inheritance in Man) is a widely used database that contains detailed information on genetic disorders, including GSDIII. Searching for “Glycogen Storage Disease Type III” or “AGL gene” in PubMed can provide references from OMIM and other relevant sources.

Furthermore, PubMed also includes articles that focus on testing and variant analysis of the AGL gene. These articles discuss the different testing methods and variant detection techniques used for diagnosing GSDIII and other genetic diseases.

In summary, PubMed is a valuable resource for obtaining scientific articles, information, and references related to the AGL gene and glycogen storage disease III. It provides access to a wide range of publications, databases, and resources that can aid in understanding and researching this genetic disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on genetic diseases and the related genes. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions.

The catalog lists the names of genes, which are stored in the OMIM database. Each gene is associated with specific diseases and variants. Additionally, the catalog provides scientific articles, references, and additional resources related to each gene and disease.

One of the diseases listed in the catalog is Glycogen Storage Disease Type III (GSDIII), also known as Cori Disease. GSDIII is a genetic disorder caused by changes in the AGL gene. Information on the genetic variants, testing, and registry for GSDIII can be found in the catalog.

In addition to GSDIII, the catalog includes information on many other genetic diseases and conditions. This enables users to easily search for specific genes or diseases of interest.

The catalog is regularly updated with new scientific findings and research. Users can access the catalog online through the OMIM website or through other genetic databases that have integrated the information from OMIM.

For healthcare professionals and researchers, the catalog serves as a valuable tool for accessing up-to-date information on genes and diseases. It can aid in diagnosis, treatment decisions, and genetic counseling for patients with genetic conditions.

See also  Genetic Conditions M

Overall, the Catalog of Genes and Diseases from OMIM provides a comprehensive and reliable resource for understanding the genetic basis of various diseases and conditions. It serves as a central hub for genetic information and resources, making it an invaluable tool in the field of genetics and healthcare.

Gene and Variant Databases

In the field of genetics, it is crucial to have reliable sources of information on genes and their associated variants. Gene and variant databases play a vital role in storing and cataloging data related to genes, genetic variants, and the diseases they are associated with.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic disorders. It provides information on the molecular basis of genetic diseases, including the gsdiii. OMIM database stores data on more than 23,000 genes and over 15,000 diseases.

Another important gene and variant database is the Glycogen Storage Disease (GSD) Registry. This registry catalogues different types of GSD, including GSDIII, which is caused by variations in the AGL gene. The GSD Registry provides a wealth of information on GSD and serves as a valuable resource for researchers, healthcare professionals, and individuals affected by these conditions.

In addition to these databases, there are also various other scientific databases and resources available. These resources include PubMed, which provides access to a vast collection of articles on genetics and related topics. PubMed allows users to search for specific genes, variants, or diseases and provides access to relevant scientific articles and references.

Genetic testing laboratories also maintain their own databases to store information on genes and variants. These databases contain data on genetic changes associated with various diseases and can aid in the interpretation of genetic test results. These databases are often used by healthcare professionals to help diagnose genetic conditions and provide appropriate treatment options.

Overall, gene and variant databases play a crucial role in the field of genetics by providing valuable information on genes, genetic variants, and the diseases they are associated with. They serve as important resources for researchers, healthcare professionals, and individuals seeking information on genetic conditions.

References

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See also  L1CAM gene