Genetic deficiencies of lysosomal components, most commonly enzymes, are known as "lysosomal storage disorders" (LSDs) and lead to lysosomal dysfunction, broadly affecting peripheral organs and the central nervous system, debilitating patients and frequently causing fatality. This seminar will update clinicians and researchers on most recent advances in diagnosis, pathophysiology and management of Fabry disease as well as in emerging therapies in the treatment of LSD.
