Lysosomal storage disorders: Clinical and therapeutic aspects

Abstract

The lysosomal storage disorders are hereditary metabolic disorders characterized by autosomal recessive inheritance, mainly caused by deficiency of an enzyme responsible for the intra-lysosomal breakdown of various substrates and products of cellular metabolism. This chapter examines the underlying defects, clinical manifestations, and provides context for the expected clinical outcome of various available therapy options employing enzyme replacement therapy, hematopoietic stem cell transplantation, substrate reduction, and enzyme enhancement therapies.

Keywords: Enzyme replacement therapy; Hereditary; Lysosomal; Metabolic; Neurologic; Storage.