Group of rare and recessively-inherited metabolic dysfunctions with an overall incidence of 1/5,000. Lysosomal-Storage Disorders (LSDs) often show a multisystemic phenotype associated with severe neurodegeneration, mental decline, cognitive problems and behavioral abnormalities. Other tissues commonly affected are bone and muscle.

LSDs are caused by mutations in genes that affect lysosomal function, leading to the abnormal build-up of various toxic materials in the cells, ultimately resulting in tissue/organ dysfunction.

Rare Disease