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
Glycogen-branching enzyme deficiency caused by an autosomal recessive mutation to the GBE1 gene, which leads glycogen branching enzyme activity that is reduced to absent. Subsequently, glycogen molecules are produced with few branches, which greatly decreasing the number of nonreducing ends, drastically slowing the rate at which the molecule can be synthesized or broken down. This causes low levels of muscle glycogen that is very resistant to amylase. Lacking proper glycogen storage, the horse's brain, heart muscle, and skeletal muscles cannot function, leading to rapid death. Most foals with glycogen-branching enzyme deficiency (GBED) are aborted (usually in the second trimester), or are stillborn, and