Figure 1.

Schematic representation of the synthesis from ceramide to globotriaosylceramide (Gb3) and the breakdown of Gb3 to ceramide with the different specific enzymes involved. Ceramide travels from the endoplasmic reticulum to the Golgi apparatus, where a plurality of specific enzymes regulates further metabolism (1). After synthesis, Gb3 travels to the plasma membrane, where it resides (2) or travels to lysosomes for degradation by specific enzymes (3,4). Breakdown products are re-used for glycosphingolipid synthesis (5) or function in cell metabolism processes. * and ∆ refer to the enzymes affected in Fabry disease (deficiency of alpha-galactosidase) and Gaucher disease (deficiency of glucosylceramidase), respectively. Eliglustat inhibits glucosylceramide synthase, while Agalsidase alpha substitutes alpha-galactosidase.