Services & Programs
Lysosomal Storage Disorders and Other Inborn Errors of Metabolism
Lysosomal storage disorders are inherited genetic diseases that result from an enzyme deficiency. The lack of enzymes results in a build-up of the substances enzymes would normally eliminate. These deposits accumulate in many cells of the body and lead to inefficient functioning and damage of the involved systems and body organs.
There are more than 40 known lysosomal storage diseases, including Fabry disease, Gaucher disease and adult Pompe disease. One treatment option offered by Penn medical genetics is enzyme replacement therapy.
Penn provides coordinated multidisciplinary care including diagnosis, genetic testing, education, genetic counseling, management and support. Penn medical genetics physicians have specific experience in treating patients with lysosomal storage diseases.