The metabolic disorders that are caused by the absence or malfunctioning lysosomal enzymes that are needed to break down certain sugars are known as mucopolysaccharidosis. The accumulation of these sugars can cause cellular damage which could affect organs, physical abilities and mental development in patients.
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?
The US FDA approved galsulfase (Naglazyme) drug is used for treatment. But there are different medications for different types of MPS.
DID YOU KNOW?
According to studies conducted 1 in 25,000 babies in the United States are born with mucopolysaccharidosis.