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 don't work properly, then the items can build up and become toxic. This happens in an area of the cell called lysosomes. The build up eventually leads to damage of cells and organs in the body.
There are about 50 types of lysosomal diseases. The diseases are characterized by the specific enzymes involved. Examples include:
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.
Lysosomal storage disease is more common in families with:
Symptoms can be severe and appear shortly after birth or mild and detected later in life. Symptoms will depend on the specific type of disease. Some common symptoms include:
You will be asked about your child's symptoms and medical history. A physical exam will be done. Skin and blood testing may be done to look for the specific enzyme that is causing the problem.
Other tests may include:
Prenatal testing and newborn screening may help with early detection of some diseases.
Treatment is focused on managing the symptoms caused by the missing enzymes. Treatment options may include:
Other treatments may include:
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 23, 2017.
Lysosomal storage disorders. National Organization of Rare Disorders website. Available at: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1132/viewFullReport. Published 2006. Accessed August 23, 2017.
Marsden D, Levy H. Newborn screening of lysosomal storage disorders. Clin Chem. 2010;56(7):1079.
Pediatric Lysosomal Storage Disorders. Children's Nation Health System. Available at: https://childrensnational.org/choose-childrens/conditions-and-treatments/genetic-disorders-and-birth-defects/lysosomal-storage-disorders. Accessed September 18, 2017.
Staretz-Chacham O, et al. Lysosomal Storage Disorders in the Newborn. Pediatrics. 2009 Apr;123(4):1191-207. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768319/.
Wynn RF, Wraith JE, Mercer J, et al. Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. J Pediatr. 2009;154(4):609.
Last reviewed September 2017 by EBSCO Medical Review BoardMichael Woods, MD, FAAP
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.