[citation needed] Like other genetic disorders, individuals inherit lysosomal storage diseases from their parents.
[citation needed] Lysosomal storage diseases affect mostly children and they often die at a young age, many within a few months or years of birth.
Some people with lysosomal storage diseases have enlarged livers or spleens, pulmonary and cardiac problems, and bones that grow abnormally.
[10] The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis.
[citation needed] No cures for lysosomal storage diseases are known, and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success.
In addition, substrate reduction therapy, a method used to decrease the production of storage material, is currently being evaluated for some of these diseases.
In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies, and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for intracellular digestion and recycling of macromolecules.