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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Forbes disease
  • Cori disease
  • Limit dextrinosis
  • Amylo-1,6-glucosidase deficiency
  • Glycogen debrancher deficiency
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Home > Genetic & Rare Diseases Information Center (GARD) > Glycogen storage disease type 3



Glycogen storage disease type 3
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Glycogen storage disease type 3 (GSDIII) is an inherited disorder caused by the buildup of glycogen in the body's cells. This buildup impairs the function of certain organs and tissues, especially the liver and muscles. Symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegaly, chronic liver disease (cirrhosis) and liver failure later in life. Some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. GSDIII is cause by mutations in the AGL gene and is inherited in an autosomal recessive manner.[1] Treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood.[2] GSDIII is divided into types IIIa, IIIb, IIIc, and IIId; types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver.[1]


References
  1. Glycogen storage disease type III. Genetics Home Reference. September 2010 Available at: http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii. Accessed March 1, 2011.
  2. Aditi Dagli, Christiaan P Sentner, David A Weinstein. Glycogen storage disease type III. GeneReviews. October 21, 2010 Available at: http://www.ncbi.nlm.nih.gov/books/NBK26372/. Accessed March 2, 2011.
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For more information about Glycogen storage disease type 3 click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 7 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates.

  • General

    • Genetics Home Reference (GHR) contains information on Glycogen storage disease type 3. Click on the link to go to GHR and review the information.
    • Medscape Reference 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.
    • 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 3. 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 3. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • 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.
 Disease-Specific Organizations | Umbrella Organizations | Social Networking Websites
Organizations (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information.

  • Disease-Specific Organizations

    • Association for Glycogen Storage Disease UK
      Old Hambledon Racecourse
      Sheardley Lane
      Droxford, Hampshire, SO32 3QY, UK
      Telephone: 0300 123 2790 (Office hours, Monday-Thursday) or 0300 123 2799 (Out of hours)
      E-mail: Online e-mail form
      Web site: http://www.agsd.org.uk/
    • Children's Fund for Glycogen Storage Disease Research, Inc.
      917 Bethany Mountain Road
      Cheshire CT 06410
      Phone: 203-272-2873
      Email: info@curegsd.org
      Web: http://www.cureGSD.org
    • Children Living with Inherited Metabolic Diseases (CLIMB)
      Climb Building
      176 Nantwich Road
      Crewe CW2 6BG
      United Kingdom
      Telephone: 0800 652 3181 (toll free)
      E-mail: info.svcs@climb.org.uk  
      Web site: www.climb.org.uk
    • Association for Glycogen Storage Disease
      PO Box 896
      Durant IA 52747
      Phone: 563-785-6038
      Email: maryc@agsdus.org
      Web site: www.agsdus.org
  • Umbrella Organizations

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • 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.
 Testing | Genetic Services | Parent Resources
Services (Found 5 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories.

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • 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.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 Upcoming Conferences | Past Conferences
Scientific Conferences (Found 5 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs.

  • Upcoming Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: Direct instruction of trainees and new investigators in rare disease research methodology; Development of a reusable curriculum/syllabus on rare disease research methodology; Stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases
  • Past Conferences

    • Translational Neuromuscular Research, Diverse Diseases, Convergent Themes, September 19, 2011 - September 21, 2011
      Location: Beaver Hollow Conference Center, Java Center, NY
      Description: The infrastructure for this conference was developed by the MSG, whose investigators have worked for the past 10 years to secure extramural funding and to develop outcome measures for clinical research/experimental muscle and other neuromuscular diseases. The goal of this conference is to help identify commonalities across therapy development in neuromuscular disease to help ensure that lessons learned in any one disease are disseminated across the neuromuscular community.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • Research Challenges in CNS Manifestations of Inborn Errors of Metabolism Workshop, December 7, 2009 - December 9, 2009
      Location: Bethesda North Marriott, Bethesda, Maryland
      Description: Jointly sponsored by the National Institute of Health's Office Rare Diseases Research, the National Institute of Neurological Disorders and Stroke, and the Food and Drug Administration's Center for Drug Evaluation and Research, Division of Gastroenterology Products, the goal of this workshop is to bring together those involved in research and investigational treatments for central nervous system aspects of inborn errors of metabolism, and to discuss ways to translate these therapies to clinical trials and beyond.
    • Society for Inherited Metabolic Disorders Annual Meeting, August 29, 2009 - September 2, 2009
      Location: Manchester Grand Hyatt, San Diego, CA
      Description: The rarity, uniqueness, variability, and the need for an individual approach to treatment make inborn errors of metabolism a very complicated subspecialty. As such, most geneticists do not know these disorders well and only very specialized metabolic centers deal with them. For the United States to remain preeminent in both clinical and research aspects of inborn errors of metabolism, it is critical that young physicians and scientists be attracted to and remain in this important field.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials.

    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.

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