Lysosomal Storage Disease
(Glycoprotein Storage Diseases; Mucopolysaccharidoses; MPS)
DefinitionLysosomal 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
CausesLysosomal 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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Risk FactorsLysosomal 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.
SymptomsSymptoms 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
- Problems with hearing or sight
- Problems including pain with bones
- Problems with heart
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