Glycogen Storage Disease Type VIII

**Definition:** 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.

**Tree numbers:** - C16.320.322.217 - C16.320.565.202.449.620 - C18.452.648.202.449.620

**Synonyms:** - Glycogenosis 8