What is a Lysosomal Storage disorder?
Lysosomal diseases are also called lysosomal storage disorders. There are more than 40 known lysosomal diseases. These diseases are all inherited conditions, caused by a mutation or deletion of important genetic information in a person’s DNA. This change in the DNA interrupts the body’s ability to make a specific kind of protein, called an “enzyme”. Each enzyme is responsible for breaking down, or digesting, a compound in the body. When an enzyme is missing, the compound it should break down builds up in the body, because the body does not have a way to dispose of the compound. The body stores the compound in the lysosomes, small compartments in the body’s cells. This is where the term “lysosomal storage disease” comes from. As the lysosomes get more and more full, the cell can become damaged and unable to do its job. This progressive storage of materials in the lysosomes causes damage to cells and tissues, which leads to the symptoms of the disease. While all lysosomal storage disease
