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 II International Pompe Association. John Crowley became involved in the fund-raising efforts in 1998 after two of his children were diagnosed with Pompe's. He joined the company Novazyme in 1999, which was working on enzyme replacement treatment for Pompe's. Novazyme was sold to Genzyme in 2001 for over US$100 million. The 2010 film "Extraordinary Measures" is based on Crowley's search for a cure. Glycogen storage disease type II Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in