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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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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. Treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. 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.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
Last updated: 2/13/2012
- Glycogen storage disease type III. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii. Accessed 3/1/2011.
- Aditi Dagli, Christiaan P Sentner, David A Weinstein. Glycogen storage disease type III. GeneReviews. October 21, 2010; http://www.ncbi.nlm.nih.gov/books/NBK26372/. Accessed 3/2/2011.
- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 3. This website is maintained by the National Library of Medicine.
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- 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.
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