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Pathway Description
Glycogenosis, Type VI. Hers Disease
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
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
Dagli AI, Weinstein DA: Glycogen Storage Disease Type VI
Pubmed: 20301760
Starch and Sucrose Metabolism References
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Pubmed: 16141072
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Pubmed: 19468303
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Pubmed: 8575769
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Pubmed: 8575768
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Pubmed: 2045107
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Pubmed: 20430893
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000555
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