Mucopolysaccharidosis

Mucopolysaccharidosis, or MPS is a subgroup of lysosomal storage diseases (DDL) which belong to even larger group of diseases entitled "Inborn Errors of Metabolism", setting up a metabolic disease caused by deficiency of enzymes.

Description

In MPS, there is a deficiency or lack of a certain enzyme in the lysosomes, which leads to accumulation of glycosaminoglycans (GAG), formerly known as mucopolysaccharides, name that gave rise to pathology. The glycosaminoglycan are molecules that have in their composition sugars that bind to a protein core. This molecule absorbs too much water, acquiring a viscous consistency, thereby promoting the lubrication between the tissues, allowing the sliding movement between them. This reduction of friction between the fabric allows, for example, the movement of bone joints. This dysfunction can lead to accumulation in cell function and, in most cases, pathological effects in cells, tissues and organs.

The cumulative incidence of all MPS is 1: 22,500 live births, but few studies have been made, which suggests that this incidence is underestimated.

The clinical manifestations of MPS's are usually multisystemic (affecting various organs) and very variable, existing forms mild to very severe.

There are seven types of MPS described presently, which are classified according to the type of deficient enzyme in the cell.

Treatment

As with many rare diseases, there is no cure for Mucopolysaccharidosis, which is merely palliative is to improve the quality of life of the patient. Some treatments are made basic drugs in an attempt to achieve the functions disabled by enzymes lacking. For Mucopolysaccharidosis I is administered the medicine called Laronidase. However, the most widely used and effective treatment is enzyme replacement therapy (ERT). The TRE is to introduce intravenous drug deficient in lysosomes of cells. So far this therapy is only approved for use in patients of Mucopolysaccharidosis I, MPS II, and MPS VI. Bone marrow transplantation is also being widely used in the attempt to insert stem cells are able to multiply properly composing enzymes.