Lysosomes are cellular organelles that are used to metabolize macromolecules. Lysosomal storage diseases (LSDs) constitute a family of about 50 rare genetic diseases that are caused by defects of lysosomal function. LSDs are most often caused by a deficiency in lysosomal enzymes involved in the digestion of macromolecules, but can also be caused by defects in non-enzymatic proteins.
A primary consequence of impaired metabolism in the lysosomes is the accumulation of undegraded or partially degraded substrates, which eventually may become toxic to the cell. LSDs are debilitating diseases, which in their severe form cause death in children of very young age.
Individual LSDs typically have incidence rates of less than 1:100.000 births. Overall, LSDs occur with incidence rates of 1:5000-1:10000 births.
A primary consequence of impaired metabolism in the lysosomes is the accumulation of undegraded or partially degraded substrates, which eventually may become toxic to the cell. LSDs are debilitating diseases, which in their severe form cause death in children of very young age.
Individual LSDs typically have incidence rates of less than 1:100.000 births. Overall, LSDs occur with incidence rates of 1:5000-1:10000 births.