Glycogen storage disease type IV the gene but show no symptoms of the disease. It affects 1 in 800,000 individuals worldwide, with 3% of all Glycogen Storage Diseases being type IV. It is a result of the absence of the glycogen branching enzyme, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver. The inability to breakdown glycogen in muscle cells causes muscle weakness. The
Glycogen storage disease type IV 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 autosomal recessive, which means each parent has a mutant copy of