Mucopolysaccharidosis is not a single but a group of metabolic disorders that happens due to malfunction or even the absence of the lysosomal enzymes. Symptoms here include excessive sugar being deposited in the cells and tissues of such patients. They would also have coarse or rough facial features, smaller stature and bone structure, enlarged organs, etc.
HOW IS MUCOPOLYSACCHARIDOSIS DIAGNOSED?
Diagnosis of the condition by a general physician is based on clinical evaluation and identification of the characteristic signs such as the abnormalities evident. Tests known as enzyme assays may be performed to detect deficient levels of lysosomal enzymes in cells of the body.
HOW IS MUCOPOLYSACCHARIDOSIS TREATED?
Currently there is no cure available for these diseases. Systemic conditions can be treated to improve quality of life. Physical exercises may help improve muscle strength.
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.