A disorder involving multiple organs due to the accumulation of glucocerebrosides in lysosomes, resulting from a deficiency of glucocerebrosidase (GCase) activity caused by mutations in the glucocerebrosidase gene (GBA1).

The standardized incidence of newborns is (0.39-5.80)/100 000 and the prevalence is (0.70-1.75)/100 000 worldwide, which is one of the most common lysosomal storage diseases.

Neuropathic Gaucher disease (type II and type III) has no effective clinical treatment. Enzyme replacement therapy (ERT) can significantly improve the visceral and hematological indexes of Gaucher disease patients, relieve bone pain, maintain normal growth and development, and improve the quality of life. However, ERT does not cross the blood-brain barrier and is ineffective for central nervous system involvement in Gaucher disease types II and III.