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]
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- More Information (Found: 12 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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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.
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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.
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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
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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.
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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.
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PubMed lists journal articles that discuss Glycogen storage disease type 2. Click on the link to go to PubMed and review citations to these articles.
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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.
- Management Guidelines
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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.
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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.
- Selected Full-Text Journal Articles
- Press Releases
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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.
- Support Groups (Found: 10 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
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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
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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/
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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/
- Disease-Specific Organizations
- Live Chat
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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.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Research & Clinical Trials (Found: 1 Resources)
Resources where you may find research studies and clinical trials
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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.
- 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
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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
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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.
- More Search Tools (Found: 1 Resources)
Resources to help you find more information on this topic
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.