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
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