Lysosomal Storage Disease

Lysosomal storage disease occurs when there is a deficiency of certain enzymes causing the lysosome in a cell to malfunction. This can lead to a number of disorders. Symptoms can vary depending on the disorder and they include seizures, blindness, deafness, and dementia.

Treatment for lysosomal storage disease includes taking medication to increase the needed enzymes. Common drug classes used for treatment include enzyme replacement therapies and GCS inhibitors.