Glycogen storage disease type 0 fructose results in a marked rise in blood lactate levels. Liver biopsy for microscopic analysis and enzyme assay is required for definitive diagnosis. Diagnosis may include linkage analysis in families with affected members and sequencing of the entire coding region of the GSY2 gene for mutations. Histologic analysis of liver tissue demonstrates moderately decreased amounts of periodic acid-Schiff (PAS)–positive, diastase-sensitive glycogen stores. Evidence of increased fat accumulation in the liver may be observed, as in other glycogen-storage diseases. Electron microscopic analysis of liver sections shows normal glycogen structure. Muscle glycogen stores are normal. There are two types of this\\e condition
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