Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated (original) (raw)

Gaucher disease, a lysosomal storage disorder, affects bone and muscle health, particularly in type 1 cases. This study investigates bone mineral density (BMD) and lean muscle mass (LMM) in children with Gaucher disease, assessing the potential link between these factors and their implications for osteoporosis and fracture risk. Using whole body DXA scans, the study aims to evaluate the skeletal health in children undergoing enzyme replacement therapy compared to untreated children, addressing an unmet clinical need for prognostic markers in this population.