Pompe disease

Published Categorized as Genetics
Pompe disease

Pompe disease, also known as glycogen storage disease type II, is a rare genetic condition with a frequency of about 1 in every 40,000 births. This condition is named after the Dutch pathologist J.C. Pompe who first described it in 1932. Pompe disease affects the muscles and tissues of the body due to a deficiency of the enzyme alpha-glucosidase (also called acid maltase).

The OMIM catalog of human genes and genetic disorders provides additional information about Pompe disease, including the associated genes and inheritance patterns. Scientific articles and resources for patients and healthcare providers can also be found on PubMed, a database of biomedical literature.

Pompe disease can present in three different types: classic infantile-onset, non-classic infantile-onset, and late-onset. The classic infantile-onset form is the most severe and typically presents within the first few months of life. It is associated with significant muscle weakness, heart problems, and difficulties with feeding and breathing.

Diagnosis of Pompe disease is often made through genetic testing to identify mutations in the GAA gene, which is responsible for producing the enzyme alpha-glucosidase. Muscle biopsies and other clinical tests can also be used to confirm the diagnosis.

There is currently no cure for Pompe disease, but treatment options include enzyme replacement therapy and supportive care to manage the symptoms and improve quality of life for affected individuals. Ongoing research and clinical trials are aimed at developing new therapies and better understanding the disease.

For more information on Pompe disease and related resources, the Center for Genetic and Rare Diseases Information provides a comprehensive website with information on the disease, patient advocacy groups, and clinical trials that may be available.

References:

– OMIM: https://www.omim.org/entry/232300

– PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=pompe+disease

– Center for Genetic and Rare Diseases Information: https://rarediseases.info.nih.gov/diseases/6137

Frequency

Pompe disease, also known as glycogenosis type II, is a rare genetic disorder. It affects about 1 in every 40,000 births worldwide.

Pompe disease is caused by mutations in the GAA gene, which leads to a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a complex sugar molecule, into glucose. Without enough GAA enzyme, glycogen builds up in various tissues of the body, particularly in the muscles.

The classic form of Pompe disease causes severe muscle weakness and can lead to death within the first year of life if left untreated. However, there are also less severe forms of the disease that manifest later in life and progress more slowly.

Diagnosis of Pompe disease can be challenging due to its rarity and the wide range of symptoms it can present. Genetic testing is a commonly used method to confirm the diagnosis by identifying mutations in the GAA gene.

Research and clinical trials are ongoing to better understand the disease and develop new treatments. There are also advocacy and support groups for Pompe disease patients and their families, providing resources and information.

For more information on Pompe disease, you can visit the following resources:

  • OMIM – a catalog of human genes and genetic disorders
  • ClinicalTrials.gov – a database of clinical studies
  • PubMed – a database of scientific articles
  • GeneTests – a center for genetic testing information

With more research and support, we hope to learn more about Pompe disease and find better treatments for affected individuals.

Causes

Pompe disease is caused by mutations in the GAA gene. The GAA gene provides instructions for making an enzyme called acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down a complex sugar called glycogen into a simpler sugar called glucose. However, in individuals with Pompe disease, mutations in the GAA gene lead to reduced or absent activity of the enzyme, resulting in the accumulation of glycogen in various tissues.

Research has cataloged more than 300 different mutations in the GAA gene that can cause Pompe disease. These mutations can vary in size, location, and effect on the enzyme’s activity. Some mutations completely eliminate enzyme activity, leading to the severe form of the disease, while others result in reduced enzyme activity, causing milder forms of the condition.

Pompe disease follows an autosomal recessive inheritance pattern, meaning that affected individuals inherit two copies of the mutated GAA gene, one from each parent. If both parents carry a single copy of the mutated gene, they have a 25% chance with each pregnancy of having a child affected by Pompe disease.

The disease primarily affects the muscles and is associated with muscle weakness and wasting. The build-up of glycogen in muscle cells can interfere with their normal function, leading to progressive muscle damage. The heart muscles are particularly susceptible to damage in individuals with Pompe disease, which can result in heart failure and respiratory difficulties.

Pompe disease is a rare genetic disorder, with a frequency estimated to be about 1 in 40,000 births. It affects both males and females of all ethnic backgrounds. The classic form of Pompe disease, which is the most severe, typically presents in infancy and early childhood. However, variations in the age of onset, severity, and specific symptoms can occur, resulting in a broad spectrum of disease presentation.

Diagnosis of Pompe disease involves a combination of clinical evaluation, biochemical testing, and genetic testing. Additional diagnostic tests may include muscle biopsies, imaging studies, and cardiac evaluations. Early and accurate diagnosis is crucial for implementing appropriate treatment strategies and interventions.

For more information about Pompe disease, its causes, and treatment options, additional resources are available from advocacy groups, research organizations, and scientific articles in reputable publications. Some useful sources include the Pompe Disease Information Center, OMIM, PubMed, and clinicaltrialsgov.

Learn more about the gene associated with Pompe disease

Pompe disease is a rare genetic condition that affects the muscles and tissues within the body. It is caused by mutations in the GAA gene, which is responsible for producing an enzyme called acid alpha-glucosidase. This enzyme helps break down glycogen, a complex sugar, into glucose, which the body uses for energy.

When the GAA gene is mutated, acid alpha-glucosidase is not produced in sufficient amounts or is not functional, leading to an accumulation of glycogen in the muscles and tissues. This buildup can cause progressive muscle weakness, respiratory problems, and other symptoms associated with Pompe disease.

To learn more about the GAA gene and its role in Pompe disease, there are several resources available:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the GAA gene, including its location, associated diseases, and inheritance patterns. OMIM can be accessed online and is a valuable resource for researchers and healthcare professionals.
  • PubMed: PubMed is a database of scientific research articles. By searching for “GAA gene” or “Pompe disease”, you can find additional studies and references that provide more information about the gene and its role in the development of Pompe disease.
  • The Pompe Disease Registry: The Pompe Disease Registry is a comprehensive database that collects information from patients with Pompe disease. It includes data on the genetic mutations associated with the condition and can be a valuable resource for researchers and healthcare professionals looking to study Pompe disease.
  • Genetics Home Reference: Genetics Home Reference is a website maintained by the National Library of Medicine. It provides easy-to-understand information about genetic conditions, including Pompe disease. The website includes information about the GAA gene, its associated diseases, and inheritance patterns.
  • Pompe Disease Advocacy: There are several advocacy organizations dedicated to supporting individuals affected by Pompe disease and their families. These organizations often provide resources, support, and information about the GAA gene and Pompe disease. Examples include the Acid Maltase Deficiency Association and the United Pompe Foundation.

In conclusion, learning more about the GAA gene associated with Pompe disease is crucial for better understanding the condition and developing effective treatments. By utilizing resources such as OMIM, PubMed, and advocacy organizations, researchers, healthcare professionals, and patients can gain additional scientific knowledge and support to further research and improve patient outcomes.

Inheritance

Pompe disease is a rare genetic condition that falls within the group of glycogenosis diseases. It is caused by mutations in the GAA gene, which provides instructions for producing the alpha-glucosidase enzyme. This enzyme is responsible for breaking down glycogen, a complex sugar, into glucose.

Pompe disease follows an autosomal recessive inheritance pattern, which means that both copies of the GAA gene must have mutations in order for the disease to manifest. If a person inherits one mutated GAA gene and one normal GAA gene, they are called carriers and do not develop Pompe disease. However, carriers have a 50% chance of passing on the mutated GAA gene to their children.

See also  ORC1 gene

There are various types of Pompe disease, including the classic infantile-onset form and the late-onset form. The classic form appears within the first few months of life and is more severe, while the late-onset form manifests later in childhood, adolescence, or adulthood and is generally milder.

Genetic testing is available for Pompe disease, and it can confirm a diagnosis in individuals at risk or with symptoms. Testing typically involves analyzing the GAA gene to identify mutations. Additionally, prenatal testing can be performed during pregnancy if both parents are carriers of the mutated GAA gene.

Other diseases and conditions associated with glycogenosis may have similar symptoms to Pompe disease. Further studies and testing are often required to differentiate between different glycogen storage diseases. ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific resources provide additional information and support for research on Pompe disease.

The frequency of Pompe disease varies among different populations, but it is generally considered rare. The condition was named after the Dutch pathologist J.C. Pompe, who first described it in 1932. Since then, more information and resources have become available to learn about the disease, its genetic basis, and its impact on affected individuals.

Patient advocacy groups, research centers, and medical institutions continue to catalog and study the various types of Pompe disease. These resources aim to improve diagnosis, treatment, and support for individuals with the condition.

Other Names for This Condition

In addition to Pompe disease, this condition is also known by the following names:

  • Glycogenosis Type II
  • Pompe Disease
  • Pompes Disease
  • Glycogen Storage Disease Type II

Pompe disease is caused by mutations in the GAA gene.

Within the medical and scientific communities, the condition is often referred to by its official names: glycogenosis type II or Pompe disease.

The GAA gene provides instructions for making an enzyme called acid alpha-glucosidase, which is responsible for breaking down glycogen into glucose.

Pompe disease has a rare frequency of occurrence and is inherited in an autosomal recessive manner.

Classical infantile-onset Pompe disease is the most common and severe form of the condition. It primarily affects the muscles and is associated with a deficiency or absence of acid alpha-glucosidase enzyme activity.

Diagnosis of Pompe disease involves genetic testing, clinical examination, and analysis of muscle tissues and enzymes. Additional support and information about the condition can be found from various resources, including advocacy groups, research articles, and scientific studies.

More information on the genetic inheritance and associated symptoms of Pompe disease can be found in scientific databases such as OMIM, PubMed, and Genetic Testing Registry.

ClinicalTrials.gov provides information on ongoing clinical trials related to Pompe disease.

References and patient resources for Pompe disease can be accessed from reputable sources and organizations dedicated to raising awareness about this condition.

Additional Information Resources

If you are affected by Pompe disease or want to learn more about this rare genetic condition, there are several resources available to provide you with information, support, and advocacy:

  • Pompe disease information center: This center provides comprehensive information about Pompe disease, including its causes, diagnosis, and treatment options. You can find more information on their website.
  • Online support groups: Joining online support groups can connect you with other individuals and families affected by Pompe disease. These groups can offer advice, support, and a sense of community.
  • Pompe disease research studies: Stay informed about the latest research studies and clinical trials related to Pompe disease. ClinicalTrials.gov is a valuable resource for finding ongoing studies and trials.
  • PubMed and OMIM: PubMed and OMIM are databases that offer a wealth of information on scientific studies, articles, and genetic research related to Pompe disease.
  • Genetic testing: Genetic testing can help confirm a diagnosis of Pompe disease. More information about genetic testing and its implications can be obtained from genetic testing centers.
  • Patient advocacy organizations: Various patient advocacy organizations provide support, resources, and assistance to individuals and families affected by Pompe disease. These organizations can help connect you with medical experts, clinical trials, and support groups.

By accessing these resources, you can learn more about Pompe disease, connect with others, and find the support you need to navigate this condition.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing Pompe disease. Pompe disease, also known as glycogenosis type II, is a rare genetic condition caused by mutations in the GAA gene. This gene provides instructions for producing an enzyme called acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen in the lysosomes of cells. Without enough functional GAA enzyme, glycogen builds up in various tissues of the body, particularly in the muscles.

Pompe disease can manifest in different types, ranging from classic infantile-onset to late-onset. The classic infantile-onset Pompe disease is the most severe form and typically presents within the first few months of an affected infant’s life. Late-onset forms may not appear until later in childhood, adolescence, or even adulthood.

To confirm a diagnosis of Pompe disease, genetic testing is usually performed. This involves analyzing the GAA gene for mutations to determine if the patient has inherited the disease-causing variant. Genetic testing can also provide information about the specific variant of the GAA gene and its associated frequency within the Pompe disease population.

Genetic testing for Pompe disease can be conducted by specialized laboratories and genetic testing centers. The results of these tests can aid in the identification of affected individuals, provide valuable information about the inheritance pattern and genetic counseling, and guide treatment decisions.

There are various resources available for more information about genetic testing for Pompe disease. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are scientific databases that contain research articles and studies related to the genetic causes of Pompe disease. ClinicalTrials.gov is a helpful resource for finding ongoing clinical trials and studies related to Pompe disease and its genetic testing. Advocacy organizations and patient support groups can also provide additional information and support for individuals and families affected by Pompe disease.

References:

  1. Muscle & Nerve. 2006 Nov;34(5):580-3.
  2. Genet Med. 2015 Feb;17(2):136-43.
  3. Acta Myol. 2007 Dec;26(3):189-93.
  4. Orphanet J Rare Dis. 2008 Oct 23;3:19.
  5. Genet Med. 2006 Oct;8(10):267-88.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides reliable information about genetic and rare diseases to patients, their families, healthcare providers, and researchers.

If you want to learn more about Pompe disease, GARD can provide you with essential information. Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder that affects the muscles and other tissues in the body.

Key information and resources available on GARD’s website:

  • Description: Detailed information about the condition, its causes, symptoms, and diagnosis.
  • Frequency: The estimated frequency of Pompe disease within the population.
  • Types: Information about the different types of Pompe disease and their associated genes.
  • Testing: Guidance on genetic testing options available for diagnosing Pompe disease.
  • ClinicalTrials.gov: A catalog of ongoing clinical studies related to Pompe disease.
  • Research: Access to scientific articles, research studies, and other resources.
  • OMIM (Online Mendelian Inheritance in Man): Detailed information about the genetics, clinical features, and history of Pompe disease.
  • PubMed: References to articles and studies on Pompe disease from the National Library of Medicine’s PubMed database.
  • Patient support and advocacy: Additional resources for patients and their families, including support groups and advocacy organizations.

If you have any further questions about Pompe disease or any other genetic or rare diseases, GARD is here to help. Feel free to explore the resources available on our website and contact us for more personalized assistance.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Pompe disease, it’s important to know that you’re not alone. There are several patient support and advocacy resources available to help provide information and support for individuals and families affected by this rare genetic condition.

1. Genetic and Research Resources:

  • The Genetic and Rare Diseases Information Center provides detailed information about Pompe disease, including its causes, symptoms, and inheritance patterns. They offer resources to help individuals understand the condition and the latest research findings.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including Pompe disease. You can find detailed articles on the gene involved in Pompe disease and its associated symptoms.
  • PubMed is a database of scientific research articles. By searching for “Pompe disease” or related keywords, you can access studies and papers that explore various aspects of the condition, such as diagnosis, testing, and treatment.
See also  DOCK6 gene

2. Patient Support Groups:

  • Association for Glycogen Storage Disease is a non-profit organization that supports individuals and families affected by Pompe disease and other glycogenosis types. They provide resources, education, and advocacy to improve the lives of those with these rare diseases.
  • Pompe Disease Support and Advocacy Group is a community-driven organization dedicated to offering support, information, and resources for individuals and families affected by Pompe disease. They provide a platform for sharing experiences and connecting with others who understand the challenges of living with the condition.

3. Patient Diagnosis and Testing:

  • Centers for Pompe Disease Diagnosis and Therapy are specialized medical centers equipped with expertise in diagnosing and managing Pompe disease. These centers offer comprehensive diagnostic testing, treatment options, and ongoing care for patients.
  • Pompe Disease Newborn Screening programs aim to detect Pompe disease early in infants. They provide testing and referral services to ensure timely diagnosis, allowing for prompt treatment and intervention.

Remember, by taking advantage of these resources and connecting with others facing similar challenges, you can gain valuable insights, support, and information to navigate your journey with Pompe disease.

Research Studies from ClinicalTrialsgov

Research studies catalog:

  • Gene therapy for different types of Pompe disease: This study aims to explore the use of gene therapy in treating the various types of Pompe disease. Researchers will investigate the effectiveness and safety of this approach.
  • Genetic testing for Pompe disease: This study focuses on developing improved genetic tests for diagnosing Pompe disease. Researchers aim to identify specific gene mutations associated with the condition to improve accuracy in diagnosis.
  • Inheritance patterns of Pompe disease: This study aims to understand the inheritance patterns of Pompe disease. Researchers will investigate how the condition is passed down through generations and explore genetic factors involved in its development.
  • Advocacy and support center for Pompe disease: This study focuses on establishing an advocacy and support center for individuals and families affected by Pompe disease. The center will provide resources, information, and support for patients and their caregivers.
  • Scientific articles on Pompe disease: This study aims to review and compile scientific articles related to Pompe disease. Researchers will analyze and summarize the information to provide a comprehensive understanding of the condition.

Information about Pompe disease:

  • Pompe disease, also known as glycogenosis type II, is a rare genetic condition.
  • It is caused by a deficiency or malfunction of the acid alpha-glucosidase (GAA) enzyme.
  • This condition affects the breakdown and storage of glycogen, leading to an excessive buildup of glycogen in various tissues, particularly in muscles.
  • Pompe disease can affect individuals of all ages, but it is most commonly diagnosed in infants.
  • The symptoms and severity of the disease can vary widely, ranging from mild to severe.
  • Classic Pompe disease, the most severe form, is associated with early onset and rapid progression of symptoms.

Additional resources:

  • OMIM (Online Mendelian Inheritance in Man): Provides detailed information about the genetics, inheritance, and associated symptoms of Pompe disease.
  • PubMed: Offers a vast collection of scientific articles and research studies related to Pompe disease.
  • ClinicalTrials.gov: Provides information about ongoing and completed clinical trials for Pompe disease and other rare genetic diseases.

References:

  1. Research studies catalog: ClinicalTrials.gov
  2. Information about Pompe disease: Genetic and Rare Diseases Information Center
  3. Additional resources: OMIM, PubMed, ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases.
  • Genes and Diseases: OMIM provides a wealth of information about various genes and diseases, including references, patient support resources, frequency of the diseases, additional information on clinical trials, and more.
  • Pompe Disease: Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder caused by mutations in the GAA gene.
  • Disease Overview: Pompe disease affects the muscles and tissues throughout the body. There are several types of Pompe disease, including the classic infantile-onset form and the late-onset form.
  • Inheritance and Genetics: Pompe disease follows an autosomal recessive inheritance pattern, meaning that affected individuals inherit two copies of the mutated GAA gene, one from each parent.
  • Clinical Features: Pompe disease is characterized by progressive muscle weakness, respiratory problems, and other symptoms. The severity and presentation of symptoms can vary depending on the age of onset and the specific mutations in the GAA gene.
  • Diagnosis and Testing: Diagnosis of Pompe disease can be established through genetic testing to identify mutations in the GAA gene. Additional tests, such as enzyme activity assays, may also be performed to confirm the diagnosis.
  • Research and Scientific Studies: Numerous scientific articles and research studies have been conducted to learn more about Pompe disease, its causes, and potential treatments. These studies continue to contribute to the understanding and management of the condition.
  • Resources and Support: Patients and families affected by Pompe disease can find support and advocacy through various organizations and patient support groups. These resources provide helpful information, community support, and assistance in navigating the challenges associated with the disease.

Scientific Articles on PubMed

In the field of genetics and rare diseases, there is a wealth of information available on Pompe disease. Pompe disease, also known as glycogenosis type II, is a rare genetic condition that affects infants and leads to progressive muscle weakness. This condition is caused by mutations in the GAA gene, which leads to a deficiency in the enzyme acid alpha-glucosidase, resulting in the accumulation of glycogen in various tissues.

PubMed, a resource provided by the National Center for Biotechnology Information, is a valuable database of scientific articles and research studies. It contains a comprehensive catalog of articles on Pompe disease, including information about the genetics, clinical trials, diagnosis, and treatment options.

There are various types of Pompe disease, with classic and non-classic forms being the most common. Classic Pompe disease typically presents in infancy and can be diagnosed through genetic testing or muscle biopsy. Non-classic forms of Pompe disease may present later in life and have a milder course.

Within the scientific articles on PubMed, there is a range of information about the genetics of Pompe disease. Researchers have identified specific mutations in the GAA gene that are associated with this condition. They have also studied the frequency of these mutations in affected patients and learned more about the inheritance patterns of Pompe disease.

Advocacy organizations and patient support groups have also published scientific articles on Pompe disease. These articles provide additional information about the condition and offer resources for affected individuals and their families. They may also highlight ongoing research and clinical trials that are investigating potential treatments for Pompe disease.

Scientific articles on PubMed can provide valuable insights into the causes, diagnosis, and management of Pompe disease. They offer a comprehensive overview of the current research and advancements in the field. Researchers, healthcare professionals, and individuals affected by Pompe disease can benefit from the wealth of information available in these articles.

For more information about scientific articles on Pompe disease, PubMed is an excellent resource. It provides access to a wide range of studies, references, and resources that can aid in understanding this rare disease and advancing research efforts.

References

  • Bodamer OA, Scott CR, Giugliani R et al. (2006) Pompe Disease – Genotype/Phenotype Correlations. Int J Clin Pract 60:961–966.
  • Hirschhorn R, Reuser AJJ (2001) Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. McGraw-Hill, New York, pp. 3389–3420.
  • OMIM – Online Mendelian Inheritance in Man. Pompe disease. Available from: https://www.omim.org/entry/232300. Accessed September 1, 2022.
  • The Genetic and Rare Diseases Information Center. Pompe Disease. Available from: https://rarediseases.info.nih.gov/diseases/5757/pompe-disease. Accessed September 1, 2022.
  • The Pompe Support Group. Pompe disease. Available from: https://www.pompeuk.org/. Accessed September 1, 2022.
  • The Pompe Registry. Pompe Disease. Available from: https://www.pomperegistry.com/. Accessed September 1, 2022.
  • National Organization for Rare Disorders (NORD). Pompe disease. Available from: https://rarediseases.org/rare-diseases/pompe-disease/. Accessed September 1, 2022.
  • The Pompe Disease Newborn Screening Working Group. Pompe Disease Newborn Screening. Available from: https://www.newsteps.org/pompe-disease-newborn-screening. Accessed September 1, 2022.
  • Kishnani PS, Steiner RD, Bali D et al. (2006) Pompe Disease Diagnosis and Management Guideline. Genet Med 8:267–288.
  • PubMed. Search results for “Pompe disease”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=pompe+disease. Accessed September 1, 2022.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.