More than 50 diseases are considered lysosomal storage disorders. The most common are Gaucher disease, Fabry disease, Hunter syndrome, Hurler syndrome, Tay-Sachs disease, and Pompe disease. The rare, inherited conditions occur when the body doesn't produce the enzymes needed to help break down certain substances, such as fats, sugars, or proteins.
Lysosomal storage disorders affect many different body systems, including the bones and joints, skin, heart, kidneys, liver, and central nervous system. Physical and intellectual developmental delay may also occur. Because so many different systems can be affected, our team includes many specialists, such as pediatric geneticists, neurologists, endocrinologists, orthopedic surgeons, cardiologists, and others. We work together to manage the complications caused by lysosomal storage disorders.
