Lysosomal Storage Disease

(Glycoprotein Storage Diseases; Mucopolysaccharidoses; MPS)


Lysosomal storage disease is a group of disorders that affect specific enzymes in a specific location. 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 over 40 different types of lysosomal diseases. The diseases are characterized by the specific enzymes involved. Examples include:
  • Fabry Morquio disease—affects the kidney, heart, and skin
  • Gaucher disease —affects the spleen and bones, and causes anemia
  • Hurler syndrome—affects the spleen, liver, joints, and eyes; causes intellectual disability and deafness
  • Maroteaux-Larny disease—affects the skin, bones, liver, and spleen
  • Niemann-Pick disease —affects the spleen, liver, and lungs
  • Pompe disease—affects the liver, heart, and muscle tissue
  • Tay-Sachs disease —affects the brain


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.
Genetic Material
Chromosome DNA
Copyright © Nucleus Medical Media, Inc.

Risk Factors

Lysosomal storage disease is more common in families with Ashkenazi Jewish, Finnish, or Dutch heritage. A family history increases the chance of the disease as well.


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:
  • Recurrent infections or hernias
  • Developmental delays
  • Muscle problems
  • Neurologic problems, including problems with hearing or sight
  • Seizures
  • Problems including nerve and bone pain
  • Problems with the heart, liver, or kidney
These symptoms may be caused by other conditions. If your child has any of these symptoms, talk to the doctor right away.

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