Glycogen storage disease type IX with enlarged livers. Glycogen storage disease type IX Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. The signs and symptoms in glycogen storage disease type IX include: Most of these signs and symptoms diminish as adulthood sets in. Glycogen storage disease type IX can be inherited via: The diagnosis of glycogen storage disease IX consists of the following: There are two types of this inherited condition, "glycogen storage disease IXa1" and "glycogen storage disease IXa2" that
Adult polyglucosan body disease People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60. APBD is an autosomal recessive disorder that is caused when a person inherits genes from both parents containing one or more loss-of-function mutations in the gene "GBE1" which encodes for glycogen branching enzyme, also called 1,4-alpha-glucan-branching enzyme. The "GBE1" gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of a complex sugar called glycogen, which is a major source of stored energy in the body. Most "GBE1" gene mutations result in a