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Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.
In addition to glycogen breakdown with the glycogen debranching enzyme and the glycogen phosphorylase enzyme, cells also use the enzyme acid alpha-glucosidase in lysosomes to degrade glycogen. A deficiency of an involved enzyme results in: Accumulation of glycogen in the cells; Lack of cellular energy negatively affects the involved organs
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.
Glycogen (black granules) in spermatozoa of a flatworm; transmission electron microscopy, scale: 0.3 μm. Glycogen is a multibranched polysaccharide of glucose that serves as a form of energy storage in animals, [2] fungi, and bacteria. [3] It is the main storage form of glucose in the human body.
The glycogen in the liver can function as a backup source of glucose between meals. [2] Liver glycogen mainly serves the central nervous system. Adrenaline stimulates the breakdown of glycogen in the skeletal muscle during exercise. [12] In the muscles, glycogen ensures a rapidly accessible energy source for movement. [2]
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.
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The glycogen debranching enzyme, in humans, is the protein encoded by the gene AGL. [5] This enzyme is essential for the breakdown of glycogen , which serves as a store of glucose in the body. It has separate glucosyltransferase and glucosidase activities.