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Mesh term Glycogen Storage Disease Type VIII

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Genetic Diseases, X-Linked
Glycogen Storage Disease

Description

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.



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