Lysosomal storage disease is a group of disorders that affect specific enzymes. These enzymes normally break down items for reuse in the cells. If the enzymes are missing or don't work properly the items can build up and become toxic. This occurs 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:

  • Fabry Morquio’s disease—affects the kidney, heart, and skin
  • Gaucher disease —affects the spleen and bones, and causes anemia
  • Hurler’s 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
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