Lysosomal Acid Lipase Deficiency — A New Therapy for a Genetic Lipid Disease

There are more than 50 different lysosomal storage diseases, genetic disorders characterized by lysosomal accumulation of substrate.1 Phenotypes vary widely, depending on the specific cell types affected. Enzyme-replacement therapy has been transformational in the treatment of some lysosomal storage diseases2; however, enzyme-replacement therapy is currently approved and commercially available for only 7 lysosomal storage diseases.The principle of enzyme-replacement therapy is that after administration of a recombinant enzyme, it is taken up by target cells and directed to lysosomes, where it can hydrolyze its substrate.2 In Gaucher’s disease, the recombinant enzyme is taken up by target macrophages by means . . .