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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