Lysosomal Storage Disorders

What is a Lysosome?

Millions of tiny units called cells make up the human body. Each cell has its own function that keeps the human body running. Within each cell, there are tiny structures that perform specific jobs to help our bodies function. One of these structures is called a lysosome. Lysosomes are the parts of our cells that produce enzymes. Enzymes are needed by our bodies to help break down nutrients and waste products in order for our cells and body organs to work properly. Lysosomes are commonly referred to as the "garbage disposal" structure of our body. Since lysosomes are digestion machines, they go to work when the cell absorbs or eats some food. Once the material is inside the cell, the lysosomes attach and release their enzymes. The enzymes then break down complex molecules, such as sugars, proteins, and fat. Therefore, in order for lysosomes to work properly, it needs the presence of enzymes. A lysosome has over 40 enzymes, and if one of these enzymes is missing or not working properly, the process of cleaning up the cell will not take place, and the substances will begin to build up in the cell.

What Are Lysosomal Storage Disorders (LSDs)?

In LSDs, there is a build up of certain materials in lysosomes. As the substances build up over time, the symptoms of the disease may start to show. There are more than 50 known types of LSDs, some of which are Fabry disease, Niemann-Pick disease and Tay-Sachs disease.

More information on different LSDs:

Fabry Disease

Gaucher Disease


Metachromatic leukodystrophy

Mucopolysaccharidosis (MPS)

Neimann Pick Disease

Pompe disease