Gaucher's Disease; Gaucher disease information

Synonyms: glucocerebrosidase deficiency, acid beta-glucosidase deficiency

Gaucher's disease is the most common lysosomal storage disease and is caused by insufficient activity of the lysosomal enzyme acid beta-glucosidase (glucocerebrosidase), leading to the deposition of glucocerebroside in cells of the macrophage-monocyte system.1


This is a companion discussion topic for the original article at https://patient.info/doctor/congenital-disorders/gauchers-disease-pro