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Glycogen storage disease type 3
Other Names for this Disease
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Forbes disease
- Glycogen debrancher deficiency
- Limit dextrinosis
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Overview
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
- Glycogen storage disease type III. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii. Accessed March 1, 2011.
- Aditi Dagli, Christiaan P Sentner, David A Weinstein. Glycogen storage disease type III. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK26372/. Accessed March 2, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 3. Click on the link to go to GHR and review the information.
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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.
- Orphanet is a European reference portal for 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.
- The 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.