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Pathway Description
Glycogenosis, Type VI. Hers Disease
Homo sapiens
Disease Pathway
Glycogen storage disease type VI, also called GSDVI or Hers disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective liver glycogen phosphorylase. Liver glycogen phosphorylase catalyzes the conversion of glycogen into amylose which is substrate of 1,4-alpha-glucan-branching enzyme and glycogen debranching enzyme. The disorder may show as enlarged liver in infancy to early childhood. Treatment may not required for some individuals. Glycogen storage disease type VI has been reported in approximately 11 people at least.
References
Glycogenosis, Type VI. Hers Disease References
[Metagen: GLYCOGENOSIS, TYPE VI. HERS DISEASE](http://metagene.de/program/d.prg?id_d=166)
[OMIM: 232700](http://omim.org/entry/232700})
[NIH](http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi)
Dagli AI, Weinstein DA: Glycogen Storage Disease Type VI
Pubmed: 20301760
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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