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Doctors for Mucopolysaccharidosis in Doiwala, Dehradun
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The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. In people affected with this condition, there is a deficiency or malfunction of specific lysosomal enzymes. This leads to abnormal accumulation of certain complex carbohydrates in various parts of the body including arteries, skeleton, eyes, joints, ears, skin, and/or teeth as well as the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This will cause progressive damage to cells, tissues, and various organ systems of the body. People with this condition have facial, heart and other abnormalities.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
A diagnosis of a mucopolysaccharidosis disorder is made based upon a thorough clinical evaluation, identification of characteristic findings (e.g., coarse facial features, skeletal malformations, hepatosplenomegaly), and a variety of specialized tests including urine analysis to detect excessive levels of mucopolysaccharides. Tests known as enzyme assays may be performed to detect deficient levels of lysosomal enzymes in cells of the body.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
The US FDA approved galsulfase (Naglazyme) drug is used for treatment. But there are different medications for different types of MPS.
DID YOU KNOW?
Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.