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.

	Through the menus below you can access detailed clinical fact sheets on each of the 40+ diseases. 1. Choose a view option to determine how diseases are listed in the second menu:   Alphabetically By disease sub-categories* By management approaches** 2. Select a disease:   <--------------------

* LSDs are sometimes grouped into sub-categories based on the type of defect and/or the accumulated substrate.[1] For more information on these groupings, see the Disease Classification page.

** Management approaches for LSDs include disease-specific treatment options such as enzyme replacement therapy (ERT), substrate inhibition, and hematopoietic stem cell transplantation (HSCT), as well as symptom management to treat clinical manifestations.[1] For more information, see the Disease Management page.

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