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Glycogen Storage Disease, Type 4

Glycogen storage disease (GSD) refers to an inherited group of glycogen metabolism disorders marked by a deficiency in one of the enzymes responsible for glycogen metabolism. As a result, abnormal levels of glycogen buildup in the body. GSD type four is caused by a deficiency in the "branching enzyme," Amylo-1,4→1,6-transglucosidase. Of all the body's tissues, the liver is the most severely affected. Clinical presentations include an enlarged spleen and liver, cirrhosis, failure to thrive, muscle weakness and cardiomyopathy. Type four isn't responsive to diet therapy and generally leads to liver failure.