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Pathway Description
Glycogenosis, Type IV. Amylopectinosis, Anderson Disease
Homo sapiens
Disease Pathway
Glycogen storage disease type IV, also called GSD IV, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective 1,4-alpha-glucan-branching enzyme. 1,4-alpha-glucan-branching enzyme catalyzes the conversion of amylose into glycogen which is essential component for cells to build up bodies. Symptoms of the disorder happen mainly in infants, which include failure to thrive, loss weight, enlarged liver and spleen, etc. Treatment with strict dietary therapy is effective in some cases. It is estimated that GSD IV affects 1 in 600,000 to 800,000 individuals worldwide.
References
Glycogenosis, Type IV. Amylopectinosis, Anderson Disease References
[Metagen: GLYCOGENOSIS, TYPE IV. AMYLOPECTINOSIS, ANDERSON DISEASE](http://metagene.de/program/d.prg?id_d=164)
[OMIM: 232500](http://omim.org/entry/232500})
[NIH](http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv)
Levin B, Burgess EA, Mortimer PE: Glycogen storage disease type IV, amylopectinosis. Arch Dis Child. 1968 Oct;43(231):548-55.
Pubmed: 5246692
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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