Glycogen Storage Disease Type I
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Glycogen Storage Disease Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Glycogen storage diseases are a group of disorders in which stored glycogen cannot be metabolized into glucose to supply energy for the body. Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature. GSDI is associated with abnormalities in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB) that result in enzyme deficiencies that cause excess amounts of glycogen accumulation in the body tissues and low levels of glucose in the blood. This enzyme deficiency also results in derangement of other important metabolites in the body thus causing imbalance or excessive accumulation of these metabolites.
Association for Glycogen Storage Disease
- P.O. Box 896
- Durant, IA 52747
- Tel: (563)514-4022
- Fax: (563)514-4022
- Email: firstname.lastname@example.org
- Website: http://www.agsdus.org
Association for Glycogen Storage Disease (UK) Ltd
- Old Hambledon Racecourse
- Sheardley Lane, Droxford
- Hampshire, SO32 3QY
- United Kingdom
- Tel: 3001232790
- Email: email@example.com
- Website: http://www.agsd.org.uk
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
- Tel: 4408452412173
- Fax: 4408452412174
- Email: firstname.lastname@example.org
- Website: http://www.CLIMB.org.uk
Children's Fund for Glycogen Storage Disease Research, Inc.
- 917 Bethany Mountain Road
- Cheshire, CT 6410
- Tel: (203)272-2873
- Fax: (203)272-6695
- Email: email@example.com
- Website: http://www.cureGSD.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/24/1970
Copyright 2012 National Organization for Rare Disorders, Inc.
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