What is Mucopolysacchardosis VI (MPS VI)?
Mucopolysacchardosis VI (MPS VI) is a rare inherited disorder also known as Maroteax-Lamy Syndrome and is one of many other related disorders collectively known as Mucopolysaccharidoses (MPS). MPS VI causes tissues and organs of the body to become enlarged and interfere at time with proper function. Individuals with MPS VI lack a necessary enzyme for waste management with in the cells of the body. The waste products build up with in the body’s cells and lead to progressive damage.
It is estimated that MPS VI occurs in 1 in 250,000 to 1 in 600,000 births.
What are the symptoms of MPS VI?
The symptoms of MPS VI vary from person to person. Some individuals have mild symptoms while others may have severe even life threatening symptoms. Many people do not show symptoms at birth but develop them through out early childhood. Symptoms of MPS VI include:
- Enlarged head
- Fluid on the brain
- Distinctive facial features
- Large tongue
- Heart valve disease
- Lung disease
- Cloudy eyes with visual problems
- Abdominal hernias
- Short stature
- Joint and spine abnormalities with mobility problems
Unlike other forms of MPS, MPS VI does not affect intellectual development
What causes MPS VI?
MPS VI is a recessive inherited genetic disorder. This defect must be passed from a person’s mother and father. An individual with the gene defect but without the disorder is known as a carrier. The mutation or defect of the gene leads to insufficient or lack of production of a necessary enzyme for the proper function of many body systems.
Are there treatment options for MPS VI?
There is no known cure for MPS VI. Treatment is directed towards the management of each individual’s specific symptoms. Treatment of MPS VI includes:
- Physical therapy to increase strength and mobility
- Monitoring and treatment of heart and lung problems
- Eye specialist involvement for vision problems
- Enzyme replacement therapy is latest treatment and still being researched
- Psychological and emotional support and therapy for patient and families to enhance quality of life
Where can I find more information on MPS VI?
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