Lysosomal storage disease is a group of disorders that affect specific enzymes in a specific location in the cell. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or do not work properly, then the items can build up and become toxic. This happens in an area of the cell called lysosomes. The buildup leads to damage of cells and organs in the body.
There are about 50 types of lysosomal diseases. Each is characterized by the specific enzymes involved. Examples are:
Lysosomal storage disease is caused by a genetic problem. The genes that plan the production of the enzymes is faulty. Both parents must pass the gene on to the child in order for the disease to develop.
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Lysosomal storage disease is more common in families with:
Symptoms can be severe and appear shortly after birth or they can be mild and found later in life. Symptoms will depend on the specific type of disease. Some common problems are:
The disease may be found both before and after a child is born. Tests may be:
Genetic testing before birth:
There is no cure. The goal is to manage symptoms caused by the missing enzymes. Options are:
There are no known methods to prevent this health problem.
Lysosomal Disease Network
National MPS Society
Canadian Society for Mucopolysaccharide & Related Diseases
Lysosomal storage disorders. Madame Curie Bioscience Database. Available at: https://www.ncbi.nlm.nih.gov/books/NBK6177. Accessed August 30, 2021.
Lysosomal storage disorders. National Organization of Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/lysosomal-storage-disorders. Accessed August 30, 2021.
Pediatric lysosomal storage disorders. Children's National website. Available at: https://childrensnational.org/visit/conditions-and-treatments/genetic-disorders-and-birth-defects/lysosomal-storage-disorders. Accessed August 30, 2021.
Last reviewed July 2021 by EBSCO Medical Review Board Kari Kuenn, MD Last Updated: 8/31/2021