Glycogen storage disease type IV
Summary of Glycogen storage disease type IV
Glycogen storage disease type IV, or Andersen's disease, is a rare autosomal recessive metabolic disorder caused by mutation in the GBE1 gene and a defective glycogen branching enzyme. Therefore, glycogen is not made properly and abnormal glycogen molecules accumulate in cells; most severely in cardiac and muscle cells. It affects 1 in 800,000 individuals worldwide and comprises 3% of all glycogen storage diseases.