What is Lysosomal Storage Diseases (LSD) Disorder?

31 January 2018 

Lysosomal storage diseases (LSD) are caused by a lack of enzymes that normally eliminate unwanted substances in the cells of the body. The enzymes are found in sac-like structures in cells called lysosomes.

Lysosomes act as the "recycling center" of each cell, breaking down unwanted material into simple products for the cell to use to build new material. The lack of certain enzymes causes a buildup of the substance that the enzyme would normally eliminate, and deposits accumulate in many cells of the body. Abnormal storage causes inefficient functioning and damage of the body's cells, which can lead to serious health problems.

The symptoms of lysosomal storage disease vary, depending on the particular disorder and other variables like the age of onset, and can be mild to severe. They can include developmental delay, regression, movement disorders, seizures, dementia, deafness and blindness. Some people with LSD have enlarged livers (hepatomegaly) and enlarged spleens (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.

There are no cures for most of the LSD and treatment is mostly symptomatic. However bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success in some cases.