What causes Lysosomal Disease?
Lysosomal Disease is an inherited group of more than 50 disorders. These disorders are caused by a genetic mutation that disrupts the affected individual’s ability to create enzymes, which are highly specialized proteins essential for survival. This disruption takes place in the lysosomes, which are small sacs inside the body’s cells. Lysosomes are often referred to as the “recycling centers” of the cell because they break down unwanted material into substances that the cell can utilize. Lysosomes break down this waste matter via enzymes. When a particular enzyme is missing or exists only in a small amount, substances in the cell, which normally would be broken down and evacuated from the lysosome, are instead able to build up. This excess accumulation inside the lysosome causes the symptoms belonging to the varied lysosomal diseases. This is also the reason why lysosomal diseases are also referred to as lysosomal storage diseases.
