Lysosomal Storage Disease Center

The Lysosomal Storage Disease Center at Cohen Children’s provides comprehensive care for patients and their families with lysosomal storage diseases from initial consultation and testing through diagnosis, treatment and follow-up. We also provide genetic counseling, carrier screening and prenatal diagnosis. Patients at the Lysosomal Storage Disease Center are treated by a team of specialists familiar with the latest advances in the treatment of these inherited diseases. 

There are more than 40 types of lysosomal storage diseases that are caused by the lack of an enzyme in the body’s cells that normally eliminates or breaks down other substances. Some of these diseases are:

• Gaucher disease – Type 1 causes enlargement of the liver and spleen and bone lesions or fractures. Other types (2 and 3) cause neurological symptoms and may be more severe.

• Pompe disease – An early (infantile) form results from buildup of glycogen in the heart, liver and muscle. Later onset forms present with progressive muscle weakness.

• Fabry disease – Typically affects males more than females. Symptoms may be present in children and adolescents, which include pain, skin rash, kidney, heart and neurological problems.

• Mucopolysaccharide storage disease – A group of conditions that can cause mental retardation, visual problems, bone deformities, liver and spleen enlargement and reduced life span.