Gaucher disease is one of the most common lysosomal storage disorders, affecting an estimated 1 in 40,000 to 1 in 100,000 people around the world.1 It can be diagnosed at any age from infancy to late adulthood. It is an inherited deficiency of the lysosomal enzyme acid-β-glucosidase (glucocerebrosidase, GBA), which results in the accumulation of glucocerebroside within lysosomes of macrophages.1
Gaucher disease can be classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2-4 The classic categories of types 1, 2, and 3 have blurred edges along the continuum of the disease.
Adapted from Sidransky E, 2004. Mol Genet Metab. 83(1-2):6-15.3
Mistry PK, et al. Am J Hematol 2011. 86(1):110-115.
Charrow J, et al. Clin Genet 2007. 71(3):211-215.
Sidransky E, et al. Mol Genet Metab. 2004. 83(1-2):6-15.
Sidransky E, et al. Gaucher disease clinical presentation. Updated November