Glycogen Storage Disease Research Paper

Glycogen Storage Disease type III is an autosomal recessive disorder that is caused by the deficiency of the glycogen debrancher enzyme. This deficiency causes there to be a mutation on exon three and it causes abnormally structured glycogen to be present in the body. This disease can be diagnosed by multiple tolerance tests and it also can be diagnosed by analyzing the muscle tissues. This disease causes problems in the liver and in the muscles. The tolerance tests are used to test for liver diseases and the analysis of the muscles is used in order to determine if a patient has myopathy. This disease affects a large range of ages. This ages can range from early childhood to adulthood usually between ages one and sixty-two. Children and adults usually experience different symptoms. The symptoms in children are most commonly growth and muscle retardation. The symptoms in adults usually vary in comparison to children. Adults usually have myopathy in there calf muscles.
The debrancher enzyme consists of amylo-1, 6-glucosydase and 4-α-glucantransferase. The debrancher enzyme is an amino acid chain. It is also known as AGL. Glycogen is an important molecule in the body because it is a polysaccharide of glucose that stores energy in the body. When there is a deficiency of the debrancher enzyme, it causes there to be an abnormally structured glycogen in the body. These abnormally structured glycogens can accumulate in tissues which then causes the disease known as the Glycogen Storage Disease type III as indicated in Lucchiari (2007). This deficiency most commonly occurs in the liver and in muscles. It can also occur only in one part of the body. For example someone can have an enzyme deficiency in just their liver and not in there muscles. When this disease occurs in the muscles it is referred to as myopathy. Glycogen Storage Disease type III is also commonly called Cori-Forbes