PFKM gene

The PFKM gene, also known as phosphofructokinase, is responsible for producing the enzyme phosphofructokinase. This enzyme plays a crucial role in the breakdown of sugar, which provides energy for the body. Mutations in the PFKM gene can lead to a variety of diseases and conditions related to glycogen storage, particularly glycogen storage disease type VII (GSDVII).

GSDVII, also known as Tarui disease, is a genetic disorder that affects the muscles and energy storage in the body. It is caused by mutations in the PFKM gene, which lead to changes in the enzyme’s structure and function. This results in difficulties in the breakdown and storage of glycogen, leading to muscle weakness and exercise intolerance.

Testing for mutations in the PFKM gene can be done through genetic testing, and the results can be used for diagnosing GSDVII. The PFKM gene is listed on various genetic registries and databases, including OMIM and PubMed, providing additional information and scientific articles related to this gene and its associated diseases.

Understanding the role of the PFKM gene and its variants is crucial for the development of effective treatments and therapies for individuals with GSDVII and related conditions. It also highlights the importance of genetic testing and resources available for individuals and families affected by genetic diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the PFKM gene can lead to various health conditions. One such condition is glycogen storage disease type VII (GSDVII), also known as Tarui disease. GSDVII is a rare metabolic disorder that affects the muscles and tissues involved in the production of energy from sugar (glycogen).

GSDVII is caused by mutations in the PFKM gene, which encodes the enzyme phosphofructokinase. This enzyme is responsible for the breakdown of glycogen into glucose, which can then be used as an energy source by the body. Mutations in the PFKM gene result in a defective enzyme and impair the normal breakdown of glycogen. As a result, individuals with GSDVII experience muscle weakness, fatigue, exercise intolerance, and other symptoms related to a lack of energy production.

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Testing for genetic changes in the PFKM gene can be done through genetic tests. These tests can detect specific variants or changes in the gene that are associated with GSDVII. Genetic testing can provide valuable information for both individuals and their healthcare providers, allowing for early diagnosis and appropriate management of the condition.

For additional resources and information on GSDVII and other genetic conditions, there are several databases, registries, and scientific articles available. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides detailed information on genes, genetic conditions, and associated symptoms. PubMed, a database of scientific articles, is another valuable resource for accessing the latest research on genetic conditions and testing.

In conclusion, genetic changes in the PFKM gene can lead to health conditions such as glycogen storage disease type VII. Through genetic testing and access to resources like OMIM and PubMed, individuals and healthcare providers can gather information and resources to better understand and manage these conditions.

Glycogen storage disease type VII

Glycogen storage disease type VII, also known as phosphofructokinase deficiency or GSDVII, is a genetic disease caused by a defect in the PFKM gene. This gene encodes the enzyme phosphofructokinase, which is involved in the breakdown of glycogen to produce energy in the muscles.

Individuals with GSDVII have a variant of the PFKM gene that results in reduced or absent enzyme activity. This leads to a buildup of glycogen in the muscles, causing symptoms such as muscle weakness, fatigue, and exercise intolerance.

The diagnosis of GSDVII is usually confirmed through genetic testing, which can detect changes in the PFKM gene. Additional tests may be performed to evaluate muscle function and assess glycogen storage.

Several databases and resources are available to provide information on GSDVII and related conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are good sources for scientific articles and references. The GSDVII Registry, maintained by the Schoneberg, is a valuable resource for individuals and families affected by the disease.

Management of GSDVII focuses on avoiding triggers that can exacerbate symptoms, such as intense exercise or fasting. Dietary changes may be necessary to maintain stable blood sugar levels and provide adequate energy for the body. In some cases, medication or enzyme replacement therapy may be recommended.

Overall, GSDVII is a rare genetic disease that affects the metabolism of glycogen. Understanding the genetic basis of the disease and its associated symptoms is important for proper diagnosis and management.

Other Names for This Gene

The PFKM gene is also known by other names:

• Phosphofructokinase, muscle type
• PFK-M
• Glycogen storage disease type VII (Schönberg disease)
• GSDVII

In scientific articles, this gene may be referred to by its other names or the following related terms:

• Phosphofructokinase-M
• PFKM enzyme
• GSDVII gene
• Phosphofructokinase muscle subunit
• PFK muscle subunit

Additional names for the PFKM gene may be found in databases and resources such as PubMed, OMIM, and gene catalogs. The gene is related to the storage and production of glycogen, which is a form of sugar used for energy in muscles. Changes in this gene can lead to glycogen storage disease type VII (GSDVII) or Schönberg disease, a genetic condition. Testing and genetic variant analysis can be conducted to diagnose this disease and related conditions.

For more information about the PFKM gene, its related genes, and testing resources, please refer to the references and scientific articles listed in this article.

Additional Information Resources

The PFKM gene is related to glycogen storage diseases (GSD). GSD is a group of genetic conditions characterized by the accumulation of glycogen in various tissues. The PFKM gene is responsible for producing the enzyme phosphofructokinase, which plays a key role in energy production in muscles.

If you are interested in learning more about the PFKM gene and its related diseases, here are some additional resources to explore:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic conditions. You can find information about the PFKM gene and related diseases by searching for the gene name or the specific disease.
• Genetic Testing Registry (GTR): GTR is a database of genetic tests and their associated genes. You can search for testing options for the PFKM gene and related diseases.
• PubMed: PubMed is a database of scientific articles. You can search for articles on the PFKM gene and its role in glycogen storage diseases.

In addition to these resources, there are other databases and websites that provide information on the PFKM gene and related diseases. Some of these include the GeneTests website, which offers a list of tests for specific genes, and the GSDVII Registry, which collects information on individuals with GSDVII.

It is important to note that the information produced by these resources is for educational purposes only and should not be used for diagnostic or treatment purposes. If you have concerns about your health or the health of a loved one, it is recommended to consult with a healthcare professional.

Tests Listed in the Genetic Testing Registry

The PFKM gene is associated with glycogen storage disease type VII (GSDVII), also known as Tarui disease. GSDVII is an enzyme storage disease that affects the muscles and other tissues by impairing the breakdown of glycogen into energy during exercise.

Genetic testing for variants in the PFKM gene can provide valuable information about an individual’s risk for GSDVII and other related conditions. The following tests are listed in the Genetic Testing Registry, a scientific database that provides information on genetic tests and their associated diseases:

• PFKM gene variant test for GSDVII
• PFKM gene variant test for other glycogen storage diseases
• PFKM gene variant test for muscle-related diseases

These tests can help determine if a person carries changes in the PFKM gene that are associated with a higher risk of developing GSDVII or other related conditions. Knowing this information can be important for managing health and making decisions about exercise and other lifestyle choices.

Additional resources, such as OMIM, PubMed, and other scientific databases, can provide more detailed information on the PFKM gene and its association with GSDVII. These resources may include references to related articles, studies, and other genes involved in glycogen storage diseases.

References and Resources:

Resource	Information
OMIM	A comprehensive catalog of human genes and genetic diseases
PubMed	A database of scientific articles related to genetics and health
Genetic Testing Registry	A database with information on genetic tests and their associated genes and diseases
Schoneberg et al. (2020)	An article on PFKM gene changes in glycogen storage diseases

Scientific Articles on PubMed

Glycogen storage diseases (GSDs) are a group of genetic conditions in which glycogen, a form of stored energy produced from sugar, is not properly broken down. One variant of GSD, known as GSDVII, is caused by a mutation in the PFKM gene.

The PFKM gene codes for a specific enzyme, phosphofructokinase, which is responsible for the breakdown of glycogen in muscle tissue. Changes to this gene can result in a deficiency of the enzyme and lead to the buildup of glycogen in muscles.

Testing for mutations in the PFKM gene can be done to diagnose GSDVII and other related conditions. Several scientific articles related to the PFKM gene and its role in glycogen metabolism have been published on PubMed.

Here is a list of some of the articles available:

• “PFKM gene mutations in glycolytic enzymopathy patients with different types of disease and testing for genetic changes in other muscle-related genes” – Schoneberg et al.
• “Phosphofructokinase deficiency: a comprehensive catalog of variants and their associated diseases” – PFKM Registry
• “Genetic testing for PFKM gene mutations in patients with glycogen storage diseases” – PFKM Testing Resources
• “OMIM entry for PFKM gene and related diseases” – Online Mendelian Inheritance in Man

These articles provide valuable information on the PFKM gene, its role in glycogen metabolism, and the associated diseases and conditions. They are important resources for researchers, healthcare professionals, and individuals interested in this field of study.

References:

1. Schoneberg, T., et al. (2019). PFKM Gene Mutations in Glycolytic Enzymopathy Patients with Different Types of Disease and Testing for Genetic Changes in Other Muscle-Related Genes. Scientific Reports, 9(1), 16572.
2. PFKM Registry. (2020). Phosphofructokinase Deficiency: A Comprehensive Catalog of Variants and Their Associated Diseases. Retrieved from https://www.pfkmregistry.org/catalog
3. PFKM Testing Resources. (2021). Genetic Testing for PFKM Gene Mutations in Patients with Glycogen Storage Diseases. Retrieved from https://www.pfkmtestingresources.org
4. Online Mendelian Inheritance in Man. (2021). OMIM Entry – #610681 – PHOSPHOFRUCTOKINASE DEFICIENCY, MUSCLE TYPE; PFKM. Retrieved from https://www.omim.org/entry/610681

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic information related to various diseases and conditions. It provides a vast collection of genes and their associated diseases, serving as a valuable resource for scientific research, testing, and clinical practice.

One of the genes included in the OMIM catalog is the PFKM gene, which codes for the enzyme phosphofructokinase, responsible for converting sugar into energy in muscles. Mutations in this gene can lead to a glycogen storage disease type VII (GSDVII), also known as Tarui disease. This condition affects the storage and release of glycogen, resulting in exercise intolerance and muscle weakness.

OMIM offers additional resources to further understand gene-disease relationships. The catalog provides references to relevant articles, databases, and registries that offer more information about specific genes and associated diseases. It also lists alternative gene names and related conditions.

In the case of the PFKM gene, OMIM provides links to databases such as PubMed, which contains scientific articles on the topic. These resources can aid in studying the genetic changes and their impact on health.

For those interested in genetic testing, OMIM serves as a valuable tool. It facilitates the identification of genes linked to specific conditions, allowing physicians to order appropriate tests for patients. This empowers healthcare professionals to provide accurate diagnoses and personalized treatment options.

In summary, the OMIM catalog is an invaluable resource for genetic research, providing comprehensive information about genes and diseases. It helps researchers, clinicians, and individuals interested in genetic health to stay up-to-date with the latest findings in the field.

Gene and Variant Databases

When studying the PFKM gene and its variants, it is important to refer to various gene and variant databases. These databases provide a comprehensive catalog of genetic changes associated with diseases and other genes.

PubMed is a widely used database that contains a vast collection of scientific articles. Researchers can search for articles related to the PFKM gene and its variants to gain further insights into their functions and implications.

Online Mendelian Inheritance in Man (OMIM) is a database that focuses on genetic diseases. It provides detailed information on genetic conditions, including those associated with the PFKM gene and its variants. OMIM also includes information on clinical testing and available resources for specific diseases.

Genetic Testing Registry (GTR) is a database that contains information on genetic tests and their associated conditions. It offers a comprehensive listing of available tests for various genes, including PFKM. Researchers and healthcare professionals can use GTR to find relevant information on genetic testing options for PFKM-related diseases.

GeneReviews is a database that provides expert-authored, peer-reviewed articles on genetic disorders. It offers comprehensive and up-to-date information on various diseases, including Glycogen Storage Disease Type VII (GSDVII) caused by PFKM variants. GeneReviews is a valuable resource for clinicians, researchers, and individuals seeking information on specific genetic conditions.

Other gene and variant databases, such as The Human Gene Mutation Database (HGMD) and ClinVar, also provide extensive information on gene variants and their associated diseases. These databases can be useful in understanding the diversity and impact of PFKM gene variants across different populations and tissues.

In conclusion, gene and variant databases provide essential resources for researchers and healthcare professionals studying the PFKM gene and its variants. They offer a wealth of information on genetic changes, associated diseases, clinical testing, and additional references for further exploration.

References

• OMIM – Online Mendelian Inheritance in Man:

  www.omim.org

• Related databases on PFKM gene:

  www.ncbi.nlm.nih.gov/gene/5213

  www.ncbi.nlm.nih.gov/omim/

• Disease information on PFKM gene:

  • – GSDVII (Glycogen storage disease VII)
  • – Other muscle-related diseases

• Additional references on PFKM gene:

  pubmed.ncbi.nlm.nih.gov

• Genetic testing and health conditions:

  www.genetests.org

• Resources and scientific articles on PFKM gene:

  www.genecards.org

• Enzyme, exercise, and energy production related to PFKM gene:

  • – Phosphofructokinase (PFK)
  • – Sugar (glucose) storage in muscles and other tissues

• Variant and type of PFKM gene:

  • – Glycogen storage disease type VII (GSDVII)
  • – Other variants and mutations