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Glycogen Storage Disease
Taxonomy Code: YF-3000.3365
A group of genetically-linked metabolic disorders that involve the enzymes that are responsible for regulating glycogen metabolism, i.e., creating glycogen from glucose (sugar), transporting the glycogen to and from storage areas within cells, and extracting glucose from the glycogen as needed to meet the body's energy requirements. The enzyme defect causes either abnormal concentrations of glycogen (too much or too little) or incorrectly or abnormally formed glycogen; and, depending of the form of the disease, creates problems that may affect the body as a whole or specific parts of the body, principally the liver and the muscles, the most common sites for glycogen storage. Symptoms associated with the liver form of the disease include hypoglycemia and liver enlargement. Those associated with the muscle form of the disease range from weakness and cramps to potentially fatal heart enlargement. The most common form of glycogen storage disease is von Gierke's disease.
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Von Gierke's Disease (YF-3000.9220)