Mucopolysaccharidosis (MPS) refers to a group of inherited lysosomal storage disorders resulting from mutations that lead to production of inadequate enzymes involved in the decomposition of glycosaminoglycans. As a result of the enzyme deficiency, inadequately decomposed mucopolysaccharides accumulate in the cells. All internal organs may be damaged: heart, liver, spleen, hearing, eyesight, teeth, skin, joint problems appear and in many cases the process affects the central nervous system. This is one of the very rare diseases. A description of these diseases was first made in the early 20th century. Depending on the specific enzyme defect, MPS are divided into seven types. With the exception of MPD II- Hunter syndrome, the disease is associated with a defect in the X-chromosome. The overall incidence of the disease is 1 in 29,000 live births. The frequency of the different types varies over 1 to 100 000. The treatment can be palliative, enzyme replacement therapy and stem cell transplantation. In the European Medicines Commission there is a registration for enzyme replacement therapy only for I, II and VI type of MPS. The drug for Type III is at the final experimental stage. Research is also being conducted on a medication for type II, which passes the blood-brain barrier.
