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Glycogen Storage Disease Type VIII

An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.

Year introduced: 1991(1989)

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Tree Number(s): C16.320.322.217, C16.320.565.202.449.620, C18.452.648.202.449.620

MeSH Unique ID: D006015

Entry Terms:

  • Glycogenosis 8

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