About Lysosomal Storage Disorders

All lysosomal storage disorders share a common pathogenesis: a genetic defect in a specific lysosomal enzyme, receptor target, activator protein, membrane protein, or transporter, leading to accumulation of substrates in cell lysosomes.^[1] The clinical manifestations, however, are widely varying across the LSD category and sometimes even within a particular disease, depending on the genetic defect and the particular substrate stored.

To view detailed clinical fact sheets on each of the 40+ diseases visit www.lysosomallearning.com

References

1.Wilcox, WR. Lysosomal Storage Disorders: The Need for Better Pediatric Recognition and Comprehensive Care. Journal of Pediatrics; May 2004: S3-S14.