Lysosomal Storage Disease Center for Children and Adults
Lysosomal storage diseases are inherited diseases that are caused by the lack of an enzyme in the body's cells that normally eliminates or breaks down other substances. This accumulation causes the symptoms of the disease. There are more than 40 of these inherited diseases. Most are rare but some are more common in certain ethnic groups.
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) severe form results from build-up 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; it causes pain, skin rash, kidney, heart and neurological problems
- Mucopolysaccharide storage diseases - A group of conditions that can cause mental retardation, visual problems, bone deformities, liver and spleen enlargement, and reduced life span
The center provides all the components of care for patients and their families from initial consultation, testing and diagnosis to follow-up and treatment; we also provide genetic counseling, carrier screening and prenatal diagnosis. Patients are treated by a team of specialists familiar with advances in the treatment of lysosomal storage disease.
