Endocrine Abstracts

Gaucher’s disease is an inherited disorder caused by loss or reduced activity of the lysosomal enzyme glucocerebrosidase (GBA). Nearly 80% of patients with Gaucher’s disease develop abnormal bone remodelling with severe consequences, including bone crises, osteonecrosis and osteoporosis related fractures. Although enzyme replacement therapy is effective at alleviating most manifestations of the disease, only modest improvements in bone health can be achieved. The rea...