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Phosphoglycerate mutase deficiency is a rare genetic condition that is primarily associated with myopathy. It is caused by mutations in the PGAM2 gene, which is responsible for producing the phosphoglycerate mutase enzyme. This enzyme plays a crucial role in energy metabolism, specifically in the process of glycolysis. Individuals with phosphoglycerate mutase deficiency experience muscle weakness and fatigue due to impaired energy production in their muscles.

Phosphoglycerate mutase deficiency was first described in a scientific article in 1975 by Toscano et al. Since then, more research and studies have been conducted to further understand this rare genetic disease. Information about the condition, its clinical features, and genetic inheritance can be found in various resources, including the OMIM database, PubMed, and the Genetic and Rare Diseases Information Center.

Advocacy and support organizations have been established to provide resources and assistance to patients and their families dealing with phosphoglycerate mutase deficiency. These organizations aim to raise awareness about the condition, fund research studies, and offer support to affected individuals. ClinicalTrials.gov also provides information on ongoing clinical trials related to phosphoglycerate mutase deficiency.

Phosphoglycerate mutase deficiency is just one of the many rare genetic diseases that affect individuals worldwide. It is important to continue studying and researching these diseases to learn more about their causes, inheritance patterns, and potential treatments. By understanding the underlying genetic mechanisms, scientists and researchers can develop targeted therapies and improve the quality of life for individuals with phosphoglycerate mutase deficiency and other rare genetic conditions.

References:

– Toscano A, DiMauro S. “Phosphoglycerate mutase deficiency: an additional inherited myopathy.” Ann Neurol. 1975; 1(2):165-170.

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– OMIM (Online Mendelian Inheritance in Man). Phosphoglycerate Mutase Deficiency, OMIM #261670.

– Genetic and Rare Diseases Information Center. Phosphoglycerate Mutase Deficiency.

– PubMed database. Search term: “phosphoglycerate mutase deficiency”.

– ClinicalTrials.gov. Search term: “phosphoglycerate mutase deficiency”.

Frequency

Phosphoglycerate mutase deficiency is a rare genetic condition. The exact frequency of the condition is not well-known, but it is believed to be a very rare disease.

Phosphoglycerate mutase deficiency is inherited in an autosomal recessive manner, which means that both copies of the gene must carry a mutation for an individual to develop the disease. It has been reported in individuals of various ethnic backgrounds.

Phosphoglycerate mutase deficiency is one of a group of glycogen storage diseases, which are inherited disorders characterized by the accumulation of glycogen in various tissues. These diseases may cause muscle weakness and other symptoms.

Causes of phosphoglycerate mutase deficiency can vary. Mutations in the PGAM2 gene are associated with this condition, and the specific mutations can differ between affected individuals.

Studies on phosphoglycerate mutase deficiency are limited, and there is currently no specific treatment for the disease. Clinical trials listed on clinicaltrialsgov may provide more information on ongoing research and potential treatments.

Patient support and advocacy organizations can provide resources and additional information for individuals and families affected by phosphoglycerate mutase deficiency. The Center for Rare Disease and Orphan Drugs is a valuable resource for learning more about rare diseases in general.

Scientific articles and research studies on phosphoglycerate mutase deficiency can be found in the PubMed database, and additional information is available on websites such as OMIM.

In summary, phosphoglycerate mutase deficiency is a rare genetic condition associated with muscle weakness and other symptoms. The exact frequency of the condition is not well-known, but it is believed to be very rare. Additional research and testing are needed to learn more about the causes and treatment options for this rare disease.

Causes

Phosphoglycerate mutase deficiency is a rare genetic condition that primarily affects the muscles. It is associated with mutations in the PGAM2 gene, which provides instructions for making the enzyme phosphoglycerate mutase. This enzyme is involved in the breakdown of glycogen, a stored form of glucose that provides energy for muscle cells.

Individuals with phosphoglycerate mutase deficiency have abnormally low levels of functional phosphoglycerate mutase, which leads to a disruption in the energy production process in the muscles. This disruption can cause muscle weakness and fatigue, often resulting in exercise intolerance. The severity and specific symptoms of the disease can vary widely between affected individuals.

The inheritance pattern of phosphoglycerate mutase deficiency is autosomal recessive, meaning that an individual must inherit two copies of the mutated PGAM2 gene (one from each parent) in order to develop the disease. Individuals who inherit only one copy of the mutated gene are considered carriers and do not typically experience symptoms of the condition.

Research studies and genetic testing have identified various mutations in the PGAM2 gene that can cause phosphoglycerate mutase deficiency. These mutations can disrupt the production or function of the phosphoglycerate mutase enzyme, leading to the characteristic symptoms of the disease.

In addition to phosphoglycerate mutase deficiency, mutations in the PGAM2 gene have also been associated with other rare muscle diseases, such as glycogen storage disease type X and muscle phosphoglycerate mutase deficiency.

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For more information about the causes of phosphoglycerate mutase deficiency, please see the resources available on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov. These sources provide scientific articles, clinical trial information, and genetic testing resources to learn more about this rare genetic condition.

Learn more about the gene associated with Phosphoglycerate mutase deficiency

Phosphoglycerate mutase deficiency is a rare genetic condition primarily associated with mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase 2, which plays a crucial role in the energy production process in muscles.

Individuals with phosphoglycerate mutase deficiency experience muscle weakness and fatigue, especially during exercise. The condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease.

To learn more about the PGAM2 gene and its association with phosphoglycerate mutase deficiency, you can explore the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including phosphoglycerate mutase deficiency. You can search for the condition using the OMIM ID 261670.
  • PubMed: PubMed is a valuable resource for scientific research articles. Searching for “phosphoglycerate mutase deficiency” will yield relevant articles that discuss the gene and its impact on individuals with the condition.
  • Genetic testing centers: Genetic testing can help diagnose phosphoglycerate mutase deficiency. Consulting with a genetic testing center or medical professional can provide further information on available testing options.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on clinical studies and trials related to various genetic diseases. Searching for “phosphoglycerate mutase deficiency” may yield ongoing studies and trials that provide additional insights into the condition.
  • Support and advocacy organizations: Connecting with support and advocacy organizations focused on phosphoglycerate mutase deficiency can provide valuable resources and a supportive community. The Toscana Genetic Testing and Research Center and advocacy groups like the DiMauro Myopathy Registry offer information and support for individuals and families affected by the condition.

Inheritance

Phosphoglycerate mutase deficiency is an inherited genetic disorder. It is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

Testing for the genetic mutations associated with phosphoglycerate mutase deficiency can confirm a diagnosis of the condition. Genetic testing is available and can be performed by specialized laboratories.

Resources for more information about the genetic causes and inheritance of phosphoglycerate mutase deficiency include:

  • GeneReviews: A comprehensive resource that provides clinical and genetic information about various genetic disorders. It includes information about the genes associated with phosphoglycerate mutase deficiency.
  • OMIM (Online Mendelian Inheritance in Man): A database that catalogs information about human genes and genetic disorders. It provides detailed information about the genetic mutations and clinical features associated with phosphoglycerate mutase deficiency.
  • ClinicalTrials.gov: A registry of clinical trials that provides information about ongoing and completed research studies. There may be clinical trials and studies investigating phosphoglycerate mutase deficiency and related conditions.
  • PubMed: A database of scientific articles, including research studies and case reports related to phosphoglycerate mutase deficiency. It can be a valuable resource for finding additional information about the condition.
  • Muscular Dystrophy Association (MDA): An advocacy and support center for individuals and families affected by muscle diseases. The MDA provides resources, support, and information about various genetic muscle disorders, including phosphoglycerate mutase deficiency.

Research studies and clinical trials are ongoing to learn more about phosphoglycerate mutase deficiency and improve diagnosis and treatment options. It is important for patients and their families to stay informed about the latest research and advancements in the field.

Other Names for This Condition

  • Phosphoglycerate mutase deficiency
  • Phosphoglycerate mutase 1 deficiency
  • PGAM1 deficiency
  • Glycogen storage disease due to phosphoglycerate mutase deficiency
  • GSD due to PGAM1 deficiency
  • Glycogen storage disease type X
  • Phosphoglycerate kinase deficiency
  • PGK deficiency
  • Myopathy with PGAM deficiency

Phosphoglycerate mutase deficiency is a rare genetic condition primarily associated with mutations in the PGAM1 gene. It is a glycogen storage disease that affects the muscles, leading to muscle weakness and myopathy. The exact frequency of this condition is unknown.

Individuals with phosphoglycerate mutase deficiency may experience symptoms such as exercise intolerance, muscle pain, cramps, fatigue, and myoglobinuria (presence of myoglobin in the urine). The severity of symptoms can vary widely between affected individuals.

Diagnosis of phosphoglycerate mutase deficiency may involve genetic testing to identify mutations in the PGAM1 gene. Additional testing, such as muscle biopsy and enzyme activity testing, may be performed to support the diagnosis.

Currently, there are limited treatment options available for phosphoglycerate mutase deficiency. Management may involve supportive care and symptomatic treatment to alleviate muscle symptoms. Regular monitoring and follow-up with healthcare professionals are important.

Research studies and scientific articles provide more information about phosphoglycerate mutase deficiency. Additional resources and support can be found through advocacy organizations and genetic counseling centers. The OMIM catalog and PubMed are valuable sources for learning about this condition.

Furthermore, individuals and families affected by phosphoglycerate mutase deficiency can find information about related clinical trials on clinicaltrialsgov. This can offer opportunities for participation and access to new treatment options.

It is important to note that phosphoglycerate mutase deficiency is a rare condition, and there may be limited information available about its causes, inheritance pattern, and associated genes. Consulting with a healthcare professional or genetic counselor can provide more personalized and up-to-date information.

Additional Information Resources

Here are some additional resources for more information on Phosphoglycerate mutase deficiency:

  • Genetic and Rare Diseases Information Center: Provides information about the genetic mutations that cause Phosphoglycerate mutase deficiency.
  • OMIM: A scientific database with detailed information about the genes associated with Phosphoglycerate mutase deficiency.
  • PubMed: A source for scientific articles and research studies on Phosphoglycerate mutase deficiency.
  • Myopathy Center: Offers resources and support for patients with Phosphoglycerate mutase deficiency.
  • ClinicalTrials.gov: Provides information on clinical trials for studying and treating Phosphoglycerate mutase deficiency.
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These resources can provide you with more information about this rare condition, its genetic causes, clinical studies, and support for patients and families affected by Phosphoglycerate mutase deficiency.

Genetic Testing Information

Genetic testing is a crucial tool in the diagnosis of individuals with Phosphoglycerate Mutase Deficiency and other myopathy diseases. This genetic test helps to identify specific mutations within the PGAM gene, which is responsible for causing this condition.

The frequency of Phosphoglycerate Mutase Deficiency is rare, making up a small portion of all myopathy cases. However, with advancements in genetic research, more information about the condition and its genetic causes is being discovered.

Phosphoglycerate Mutase Deficiency primarily affects the muscles, leading to muscle weakness, fatigue, and muscle cramps. Some other names for this condition include PGAM deficiency, glycogen storage muscle type V, and glycogen storage disease type X.

To learn more about this rare genetic condition and find additional resources and support, you can refer to the following:

  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the symptoms, inheritance patterns, and genetic mutations associated with Phosphoglycerate Mutase Deficiency. You can visit the OMIM website to access their database of relevant articles and scientific research.
  • ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials that are being conducted worldwide. You can search for ongoing or completed clinical trials related to Phosphoglycerate Mutase Deficiency and find information about potential treatment options and research studies.
  • PubMed – PubMed is a database of scientific articles across various medical disciplines. You can search for published studies and research papers related to Phosphoglycerate Mutase Deficiency to stay up-to-date with the latest scientific advancements and findings.
  • Patient Advocacy Centers – Patient advocacy centers dedicated to myopathy diseases, such as the Muscular Dystrophy Association (MDA) and the United Pompe Foundation (UPF), can provide valuable support, educational materials, and resources for individuals and families affected by Phosphoglycerate Mutase Deficiency.

Genetic testing and ongoing research are essential for understanding the underlying causes of Phosphoglycerate Mutase Deficiency and developing potential treatments. By staying informed and connected with the scientific and patient communities, individuals and their families can access the support and resources they need to manage this rare genetic condition effectively.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases, such as Phosphoglycerate Mutase Deficiency. GARD provides additional information about this condition, including its causes, inheritance patterns, and associated symptoms.

Phosphoglycerate Mutase Deficiency, also known as glycogen storage disease X (GSD-X) or Tarui disease, is a rare genetic disorder primarily affecting the muscles. It is caused by mutations in the PGAM2 gene, which leads to insufficient production of an enzyme called phosphoglycerate mutase (PGAM).

Individuals with Phosphoglycerate Mutase Deficiency may experience symptoms such as muscle weakness, exercise intolerance, and muscle cramps. These symptoms typically begin in childhood and can vary in severity. GARD provides more information about the signs and symptoms of this condition and offers resources for individuals seeking genetic testing and support.

GARD also provides resources for individuals interested in participating in clinical trials or learning more about ongoing research studies related to Phosphoglycerate Mutase Deficiency. ClinicalTrials.gov, a database of publicly and privately supported clinical studies, can provide information about current studies and their locations.

In addition, GARD provides information about advocacy organizations that offer support and resources for individuals and families affected by rare genetic diseases. These organizations can provide guidance on managing symptoms, connecting with other individuals affected by the condition, and accessing appropriate medical care.

GARD also offers resources for healthcare professionals and researchers interested in learning more about Phosphoglycerate Mutase Deficiency. The GARD website includes scientific articles, references, and catalogues that provide in-depth information about the condition’s genetic basis, clinical features, and management options.

For more information on Phosphoglycerate Mutase Deficiency and other rare genetic diseases, individuals and healthcare professionals can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.

Patient Support and Advocacy Resources

Phosphoglycerate mutase deficiency is a rare genetic condition primarily associated with muscle myopathy. If you or someone you know has been diagnosed with this condition, it is important to seek support and information from reliable sources. The following patient support and advocacy resources can provide scientific and clinical information, as well as connect you with others who are affected by this condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genes, genetic conditions, and associated inheritance patterns. Visit their website to learn more about phosphoglycerate mutase deficiency and access additional resources.
  • Glycogen Storage Disease Program: The Glycogen Storage Disease Program at the Toscano Center for Pediatric Research offers resources, research, and support for individuals and families affected by various genetic diseases. Their website provides information on phosphoglycerate mutase deficiency and other related conditions.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a central repository of information on genetic and rare diseases. Their website offers articles, clinical trials, and additional resources for those seeking more information on phosphoglycerate mutase deficiency.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “phosphoglycerate mutase deficiency” on PubMed can provide you with the latest scientific studies and publications related to this condition.
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In addition to these resources, patient advocacy groups and organizations can offer support, education, and resources. Some of the organizations that may be able to provide assistance include:

  • Phosphoglycerate Mutase Deficiency Advocacy Group
  • Glycogen Storage Disease Association
  • Rare Diseases Patient Support Foundation

These organizations can provide information on clinical trials, patient conferences, and support networks specific to phosphoglycerate mutase deficiency. By connecting with these resources, individuals and families affected by this condition can find the support and guidance they need.

References:

  1. Dimauro, S., & DiMauro, P. M. (2020). Phosphoglycerate mutase deficiency. In GeneReviews®. University of Washington, Seattle.
  2. Phosphoglycerate mutase deficiency. (n.d.). OMIM. Retrieved from https://www.omim.org/entry/601815
  3. ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/

Research Studies from ClinicalTrials.gov

Glycogen is a complex carbohydrate primarily found in the muscles and liver. Phosphoglycerate mutase deficiency is a rare genetic condition that causes a myopathy, a muscular disease. This condition is associated with mutations in the PGAM2 gene.

Research studies from ClinicalTrials.gov provide important information about this rare condition and offer opportunities for individuals to participate in clinical trials related to phosphoglycerate mutase deficiency. ClinicalTrials.gov is a scientific research catalog that lists ongoing and completed clinical studies conducted worldwide.

By searching for “phosphoglycerate mutase deficiency” on ClinicalTrials.gov, you can find a wealth of resources, including information about ongoing studies, patient advocacy groups, and genetic testing centers. These studies aim to learn more about the condition, its causes, and inheritance patterns.

Additional information about phosphoglycerate mutase deficiency can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Dimauro Center for Muscle Research. These resources provide scientific articles, genetic information, and support for individuals affected by this rare condition.

It is essential to stay informed about the latest research and advancements in the field of phosphoglycerate mutase deficiency. By keeping up with the latest studies and resources, individuals affected by this condition can find support and access to testing and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and associated diseases.

Phosphoglycerate mutase deficiency is a rare genetic condition caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in the breakdown of glycogen in muscles.

Individuals with phosphoglycerate mutase deficiency may experience muscle weakness, exercise intolerance, and myopathy. The condition is primarily genetic in nature and is inherited in an autosomal recessive manner.

Research and clinical studies have identified mutations in the PGAM2 gene as the primary cause of phosphoglycerate mutase deficiency. Additional scientific articles and studies can be found on PubMed and the OMIM website.

Testing for phosphoglycerate mutase deficiency can be done through genetic testing, which looks for mutations in the PGAM2 gene. The frequency of this condition is currently unknown.

More information on phosphoglycerate mutase deficiency, along with resources for patient support and advocacy, can be found on the OMIM website.

References:

This catalog provides a comprehensive resource for learning about genes and genetic diseases. It serves as a valuable tool for researchers, healthcare providers, and individuals interested in genetic conditions.

Scientific Articles on PubMed

Phosphoglycerate mutase deficiency is a rare genetic disease primarily associated with mutations in the PGAM2 gene. This condition, also known as glycogen storage disease type X, leads to muscle myopathy and other associated symptoms.

Research on phosphoglycerate mutase deficiency is limited, but there are scientific articles available on PubMed that provide more information about the causes, clinical presentation, and genetic inheritance of this rare condition.

Some of the articles on PubMed include:

  1. “Phosphoglycerate mutase deficiency: a rare myopathy” by DiMauro S. and Toscano A. – This article provides an overview of the clinical features, muscle biopsy findings, and genetic mutations associated with phosphoglycerate mutase deficiency. It also discusses the inheritance pattern and possible treatment options for affected individuals.
  2. “Phosphoglycerate mutase deficiency: a case report” – This article presents a detailed case report of an individual with phosphoglycerate mutase deficiency, describing their symptoms, diagnostic testing, and management strategies. It offers valuable insights into the clinical manifestations and challenges of diagnosing and treating this rare condition.
  3. “Phosphoglycerate mutase deficiency: a review of the literature” – This comprehensive review summarizes the current knowledge on phosphoglycerate mutase deficiency, including its clinical presentation, genetic basis, and potential underlying mechanisms. It also discusses the frequency of the condition and highlights the importance of genetic testing and counseling for affected individuals and their families.

Additional resources for information on phosphoglycerate mutase deficiency include OMIM, a catalog of human genes and genetic disorders, as well as clinicaltrialsgov, which lists ongoing research studies and clinical trials related to this condition.

For support and advocacy, individuals affected by phosphoglycerate mutase deficiency can also reach out to various organizations specializing in rare diseases and genetic conditions.

References and Resources:
PubMed https://www.ncbi.nlm.nih.gov/pubmed
OMIM https://www.omim.org
ClinicalTrials.gov https://www.clinicaltrials.gov

References

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