University:
Liberty University
Course:
BIOM 500 | Introduction to Biomedical Sciences
Academic year:

2024
Views:

221

Pages:

5
Author:

Sheha A.

Glycogen Storage Disease The inherited genetic defect related to the glycogen metabolism are known as glycogen storage diseases or glycogenosis. Glycogen storage diseases are characterized by deposition of abnormal or abnormal amounts of glycogen in the tissues. Glycogenosis are a group of genetic diseases that result due to enzyme defects that affect glycogen metabolism. There are 6 major types of glycogen storage diseases. In each type, there is a deficiency in a specific enzyme. Type I is also called Von Gierke's disease. Type 5 is called McArdle's disease. The debranching enzyme is absent. These diseases are accumulation of polysaccharides. Type 4 is called Andersen's disease Branching enzyme is absent. These diseases are accumulation of polysaccharides. Type 6 is called Hers' disease. The lysosomal alpha glucosidase is overexpressed. The overall synthesis of glycogen is increased in glycogenosis type 6. In the absence of this enzyme, glycogen is not degraded. This is a type of lysosomal storage disease. Type 3 is called Cori's disease. The debranching enzyme is absent. These diseases are accumulation of polysaccharides.