An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. Doctor should assess the activity of the beta-glucocerebrosidase enzyme — the protein defective in Gaucher disease — in dried…
Read morePain is a common symptom of Gaucher disease. It can severely restrict movement, and increases the chance of permanent disability. Episodes of severe pain can occur in cases of bone tissue death due to lack of oxygen supply, a condition known as avascular necrosis or osteonecrosis. Pain…
Cerezyme (imiglucerase) is an approved enzyme replacement therapy designed to manage certain disease complications and ease symptoms in adults and children 2 and older with Gaucher disease type 1. It is delivered via intravenous infusions, at a dose and frequency that varies based on disease severity.
