Conditions / Genetic

glycogen storage disease VIII

info ยท Genetic

A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity.

Also known as: Glycogen storage disease 8; glycogen storage disease type VIII; glycogenosis type VIII; hepatic glycogen phosphorylase kinase deficiency