Glycogen storage disease type 3
Other Names for this Disease
- Amylo-1,6-glucosidase deficiency
- Cori disease
- Cori-Forbes disease
- Forbes disease
- GDE deficiency
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Glycogen storage disease type 3 (GSDIII) is caused by changes (mutations) in the AGL gene. This gene provides instructions for making the glycogen debranching enzyme, which is involved in the breakdown of glycogen - an important source of stored energy in the body. Most mutations in the AGL gene lead to production of a non-working form of the glycogen debranching enzyme; these mutations are usually responsible for causing GSD types IIIa and IIIb. The mutations in the AGL gene that cause types IIIc and IIId presumably lead to the production of glycogen debranching enzyme with reduced function. All AGL mutations, however, lead to the increased buildup of abnormal, partially broken down glycogen within cells. This buildup damages tissues and organs in the body, thereby causing the signs and symptoms of GSDIII.
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 2/13/2012.