Glycogen Storage Diseases

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Chapter: Biochemistry : Glycogen Metabolism

These are a group of genetic diseases that are caused by defects in enzymes required for glycogen degradation or, more rarely, glycogen synthesis.


GLYCOGEN STORAGE DISEASES

These are a group of genetic diseases that are caused by defects in enzymes required for glycogen degradation or, more rarely, glycogen synthesis. They result either in formation of glycogen that has an abnormal structure or in the accumulation of excessive amounts of normal glycogen in specific tissues as a result of impaired degradation. A particular enzyme may be defective in a single tissue, such as liver (resulting in hypoglycemia) or muscle (causing muscle weakness), or the defect may be more generalized, affecting a variety of tissues. The severity of the GSDs ranges from fatal in early childhood to mild disorders that are not life threatening. Some of the more prevalent GSDs are illustrated in Figure 11.8. [Note: Only one GSD is lysosomal because glycogen metabolism occurs primarily in the cytosol.]



Figure 11.8 Glycogen degradation, showing some of the glycogen storage diseases (GSDs). [Note: A GSD can also be caused by defects in branching enzyme, an enzyme of synthesis, resulting in Type IV: Andersen disease and causing death in early childhood from liver cirrhosis.] Pi = inorganic phosphate; P = phosphate. Glycogen degradation, showing some of the glycogen storage diseases (GSDs).

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