What are lysosomal storage disorders?
In lysosomal storage disorders, the lysosome does not function properly due to the absence or malfunction of a specific protein: an enzyme. A lysosome acts as the cell’s waste disposal and recycling center. Much like a city has facilities that break down waste and recycle useful materials, lysosomes help clean up and recycle waste within a cell. The specialized proteins inside lysosomes—the enzymes—are responsible for breaking down cellular waste. When an enzyme is missing or defective, the lysosome cannot do its job properly. As a result, waste products accumulate inside the cell and can cause damage to various organs in the human body. This is what happens in lysosomal storage disorders.
Pompe disease
In Pompe disease, the lysosomal enzyme GAA does not function properly. As a result, glycogen (a large sugar molecule) is not broken down efficiently and accumulates in organs and tissues. The primary tissue affected by this buildup is muscle tissue. In the most severe form of the disease, the heart and brain are also affected.
Hunter syndrome
In Hunter syndrome, the lysosomal enzyme IDS does not function as it should. This prevents glycosaminoglycans (large sugar molecules) from being broken down, causing them to accumulate in the patient’s body. The tissues most affected by impaired IDS activity are the liver, spleen, cartilage, and bones. In the most severe form of the disease, the brain is also affected.
