Figure 2. Different consequences of GBA and GBA2 deficiency.

(A) In patients with Gaucher’s disease, GBA deficiency leads to lysosomal accumulation of glucosylceramide and engorged hepatic and splenic macrophages. (B) In contrast, deficiency of GBA2 in mice leads to accumulation of lipid vesicles in testicular Sertoli cells. Dysmorphic round-headed sperm lacking acrosomes are produced in Gba2-null mouse testis compared with the normal falciform sperm heads in wild-type testis.