Glycogen storage disease type IV old. It has not been associated with cirrhosis or liver failure. Glycogen storage disease type IV Glycogen storage disease type IV, also known as Andersen’s Disease, is a form of glycogen storage disease, which is caused by an inborn error of metabolism. It is the result of a mutation in the GBE1 gene, which causes a defect in the glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. The severity of this disease varies on the amount of enzyme produced. Glycogen Storage Disease Type IV is
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