Fig. 5.

General therapeutic strategies for the treatment of sphingolipidoses. There are five main therapeutic approaches to treat sphingolipidoses. Substrate reduction therapy (SRT, orange) involves the prevention of influx of substrates into the lysosome, to lower synthesis of the accumulating substance. The other treatment strategies (gold) involve enhancing the activity of the missing or malfunctioning enzyme. Enzyme replacement therapy (ERT) uses purified enzyme to reverse the pathology (the crystal structure of α-GAL is shown). Chaperone therapy (CT) is used to assist the folding of misfolded enzymes to be targeted to the lysosome. Bone marrow transplantation and stem cell transplantation (BMT) are used to supply the body with the correct form of the missing enzyme, and gene therapy (GT) is used to modify the genes responsible for the aberrant phenotype