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?
Unfortunately, there is no current treatment available for Mucopolysaccharidosis. However, exercises and physiotherapy are highly recommended here. Patients suffering from this problem can get respite from Enzyme replacement therapy or even bone marrow transplant. In some cases, there has been some relief from umbilical cord blood transplantation too but the chances of success are lower.
DID YOU KNOW?
There are about 40 different types of lysosomal storage diseases that have been identified.