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Pathway Description
Glycogen Synthetase Deficiency
Homo sapiens
Disease Pathway
Glycogen storage disease, also called glycogenosis and dextrinosis, is a rare inborn error of metabolism (IEM) and recessive disorder, which is caused by a defective glycogen synthase. Glycogen synthase catalyzes the conversion of uridine diphosphate glucose into amylose and uridine 5'-diphosphate which amylose is the substrate of 1,4-alpha-glucan-branching enzyme and glycogen debranching enzyme. This disorder is characterized by a large accumulation of glycogen in the liver or muscles. Symptoms of the disorder depends on the type of glycogen storage disease (e.g. GSD I, GSD III, etc.). Treatments are also depend on the type of glycogen storage disease.
References
Glycogen Synthetase Deficiency References
[Metagen: GLYCOGEN SYNTHETASE DEFICIENCY](http://metagene.de/program/d.prg?id_d=172)
[OMIM: 240600](http://omim.org/entry/240600})
[NIH](http://en.wikipedia.org/wiki/Glycogen_storage_disease)
Crago M: Glycogen storage disease. Arch Dis Child. 1944 Dec;19(100):181-3.
Pubmed: 21032274
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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