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Pathway Description
Glycogenosis, Type III. Cori Disease, Debrancher Glycogenosis
Homo sapiens
Disease Pathway
Glycogen storage disease type III, which is also known as GSD III or Cori disease, is a rare inherited inborn error of metabolism (IEM). GSD-III has an incidence of about 1 in 100 000. The incidence of GSD-III is higher in North African Jews (1 in 5 400), Faroese (1 in 3 100) and the Inuit population in Nunavik, Canada (1 in 2 500). GSDIII is an autosomal recessive metabolic disorder characterized a deficiency in glycogen debranching enzymes, specifically the enzyme amylo-1,6 glucosidase. GSD III causes a buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. GSD III typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later in life. GSD III is divided into the types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc affect primarily the liver and muscles. This is in direct contrast to GSD types IIIb and IIId which affect only the liver. Differentiating between the types of GSD III which affect the same tissue is extremely challenging. Out of all the GSD types, IIIa and IIIb are the condition's most common forms. Treatment for glycogen storage disease type III may involve a high-protein diet, in order to facilitate gluconeogenesis.
References
Glycogenosis, Type III. Cori Disease, Debrancher Glycogenosis References
[Metagen: GLYCOGENOSIS, TYPE III. CORI DISEASE, DEBRANCHER GLYCOGENOSIS](http://metagene.de/program/d.prg?id_d=163)
[OMIM: 232400](http://omim.org/entry/232400})
[NIH](http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii)
Garancis JC, Panares RR, Good TA, Kuzma JF: Type 3 glycogenosis. A biochemical and electron microscopic study. Lab Invest. 1970 May;22(5):468-77.
Pubmed: 4316112
Starch and Sucrose Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Roach PJ, Depaoli-Roach AA, Hurley TD, Tagliabracci VS: Glycogen and its metabolism: some new developments and old themes. Biochem J. 2012 Feb 1;441(3):763-87. doi: 10.1042/BJ20111416.
Pubmed: 22248338
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