Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Pompe disease
  • AMD
  • Acid maltase deficiency
  • Cardiomegalia glycogenica diffusa
  • Cardiac form of generalized glycogenosis
  • Alpha-1,4-glucosidase deficiency
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Home > Genetic & Rare Diseases Information Center (GARD) > Glycogen storage disease type 2



Glycogen storage disease type 2
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Glycogen storage disease type 2, also known as Pompe disease and acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. This enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell.[1] This accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.[2] Glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2.[1]
 

References
  1. Pompe Disease. National Organization for Rare Disorders (NORD). 2007 Available at: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pompe%20Disease. Accessed December 24, 2008.
  2. Pompe disease. Genetics Home Reference (GHR). October 2006 Available at: http://ghr.nlm.nih.gov/condition=pompedisease. Accessed December 24, 2008.

Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Glycogen storage disease type 2 click on the boxes below:
More Detailed Information NLM Gateway Medical Products Services Support Groups Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles | Press Releases
More Detailed Information (Found 13 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • Genetics Home Reference (GHR) contains a condition summary on Glycogen storage disease type 2. Click on the link to go to GHR and review this summary.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glycogen storage disease type 2. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 2. Click on the link to view a sample search on this topic.
    • The Social Security Administration (SSA) created the Compassionate Allowance Initiative to speed up the processing of disability claims for applicants with certain conditions. Click on the link to view the Compassionate Allowance information for this condition. More information about applying for Social Security disability benefits is available online.
      Link: https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022280
  • Management Guidelines

    • The American College of Medical Genetics (ACMG) provides education, resources, and a voice for the medical genetics profession.  To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases. In an effort to fulfill its mission, the ACMG performs many tasks, including developing clinical practice guidelines.  In May 2006, the ACMG Work Group on Management of Pompe Disease released a ACMG Practice Guideline titled "Pompe disease diagnosis and management guideline." To view this practice guideline, visit the link above.
    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • Selected Full-Text Journal Articles

  • Press Releases

    • The U.S. Food and Drug Administration (FDA) provides information about an FDA-approved treatment for Pompe disease called Myozyme through a 2006 Press Release. To view this information, click on the above link.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Medical Products (Found 1 resource)
 Testing | Genetic Services
Services (Found 2 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 11 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

    • Genetic Alliance
      4301 Connecticut Avenue NW
      Suite 404
      Washington, DC 20008-2369
      Telephone: 202-966-5557
      Fax: 202-966-8553
      E-mail: info@geneticalliance.org
      Web site: http://www.geneticalliance.org
    • MUMS National Parent-to-Parent Network puts parents of children with various conditions in touch with other parents of children with the same condition. Families with children with glycogen storage disease type 2 have registered with this Network.


      150 Custer Court
      Green Bay, WI 54301
      Toll free: 877-336-5333
      Telephone: 920-336-5333
      Fax: 920-339-0995
      Email:  mums@netnet.net
      Web site:  http://www.netnet.net/mums/
    • National Organization for Rare Disorders (NORD)
      55 Kenosia Avenue
      PO Box 1968
      Danbury, CT 06813-1968
      Toll-free:  1-800-999-6673 (voicemail only)
      Telephone:  203-744-0100
      TTY: 203-797-9590
      Fax: 203-798-2291
      E-mail:      orphan@rarediseases.org
      Web site:   http://www.rarediseases.org/
  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Glycogen storage disease type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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