Glycogen storage disease 8
Other Names: Glycogenosis type 8; Glycogen storage disease VIII; Hepatic phosphorylase kinase deficiency; Phosphorylase kinase deficiency of liver; PYKL
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.
NIH genetic and rare disease info[edit source]
Glycogen storage disease 8 is a rare disease.
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