The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioni...

Correspondence to Frances M. Platt: [email protected]; Barry Boland: [email protected]; or Aarnoud C. van der Spoel: [email protected] Abbreviations used in this paper: CNS, central nervous system; LSD, lysosomal storage disease; NPC, Niemann-Pick type C. Lysosomal storage disorders: A brief overview Inborn errors of metabolism are a common cause of inherited disease (Burton, 1998), of...

Glycoproteins containing the mannose 6-phosphate (Man-6-P) modification represent a class of proteins of considerable biomedical importance. They include over sixty different soluble lysosomal hydrolases and accessory proteins, deficiencies of which result in over forty different known human genetic diseases. In addition, there are patients with lysosomal storage diseases of unknown etiology an...

Significant advances in therapy for lysosomal storage disorders have occurred with an accelerating pace over the past decade. Although enzyme replacement therapy has improved the outcome of lysosomal storage disorders, antibody responses have occurred and sometimes prevented efficacy, especially in cross-reacting immune material negative patients with Pompe disease. Preclinical gene therapy exp...

Emerging evidence indicates that lysosome function extends beyond macromolecular degradation. Genetic and functional defects in components of the lysosomal transport machinery cause lysosomal storage disorders implicating the lysosomal solute carrier (SLC) transporters as essential to vital cell processes. The pathophysiology and therapeutic potential of lysosomal SLC transporters are highlight...

Lysosomal storage diseases (LSDs) are a heterogeneous group of rare inherited metabolic diseases that are frequently triggered by the accumulation of lipids inside organelles of the endosomal-autophagic-lysosomal system (EALS). There is now a growing realization that disrupted lysosomal homeostasis (i.e., lysosomal cacostasis) also contributes to more common neurodegenerative disorders such as ...