Mucopolysaccharidosisy
What is Mucopolysaccharidosis (MPS)?
Mucopolysaccharidosis (MPS) is a group of inherited cellular disorders that affects 1 in 25,000 babies born in the United States. There are nine subdivisions of MPS. This disease and its subdivisions are all related to Lysosomal Storage Disease (LSD). The Lysosome of a cell is responsible for changing unneeded cell materials into useful material for cell function.
Individuals with MPS are missing or have malfunctioning enzymes required performing this function with in the cell. MPS leads to the buildup of unnecessary materials with in the cell thus, interfering with cell function and leading to cell damage. MPS can lead to damage of literally every cell within the body. This cellular disease can lead to malfunction and damage of cells in the cardiac, respiratory and nervous system. Bones and joints are also affected.
What are the symptoms of Mucopolysaccharidosis (MPS)?
Symptoms of MPS may not present themselves at birth. Most commonly symptoms are noticeable between the ages of two and four years of age. As individual ages, the symptoms become more apparent. Thought the symptoms may vary with each different subdivision of MPS similar symptoms include:
- Intellectual development disorders
- Stunted growth
- Enlarged head
- Heart disease
- Large abdomen
- Tongue protrusion
- Joint stiffness and pan
- Inability to control bowel or bladder
- Behavioral problems
What causes MPS?
MPS is an inherited genetic disease. In most forms of MPS it is passed on from a recessive genetic trait in the mother and father. One form of MPS can be passed from a mother to her son. A child can be a carrier of this recessive gene without developing the disease. Parents that have a child with MPS have a 1 in 4 chance of having another child with MPS. There are genetic tests available to determine if an individual is a carrier of MPS.
Are there treatment options for MPS?
There is no cure for MPS. Treatment is directed at symptom management and improving the individual’s quality of life. Physical therapy, dietary management and environmental adjustments for safety are all employed. Surgery is at times used to assist with hernia development, spinal stabilization, respiratory difficulties, tonsil removal and heart valve disease. Surgery is performed cautiously as children with MPS have difficulty healing from any trauma. Enzyme and gene therapy are currently in the early stages of development. Much more research is still needed for both these therapies.
Where can I find more information?
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