Mucopolysaccharidoses

The mucopolysaccharidoses (MPS) are a group of inherited metabolic diseases caused by the absence or malfunction of certain enzymes necessary for the processing of molecules called glycosoaminoglycans or glycosaminoglycans, which are long chains of carbohydrates carbon present in each of our cells that help build bones, cartilage, tendons, corneas, skin, connective tissue and hematopoietic tissue. This term does not characterize a disease but a group of diseases.

Causes

People with mucopolysaccharidoses either don't make enough of one of the 11 enzymes required to break these sugar and protein chains into simpler molecules, or they make enzymes that don't work properly. Individuals normal at birth. Over time, these glycosaminoglycans accumulate abnormally in cells, blood, and connective tissue. This produces permanent and progressive cellular damage that affects the appearance and physical abilities, the organs and the functioning of the individual's body and, in most cases, mental development.

Degradation of mucopolysaccharides (dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin sulfate) occurs in the lysosomes of cells in different organs such as the liver, spleen, or blood vessels.

Classification

There are several types of mucopolysaccharidoses; among the most representative are:

• Type I mucopolysacaridosis, also called Congolese or Hurler disease. There is a defect of the α-1-iduronidase enzyme. These children can live up to adolescence and have low size, bone deformities, mental retardation, hepatomegaly, eye alterations and facies of gargola.
• Type II or Type II or Hunter's Disease. There is a deficiency of the enzyme called iduronate sulfatase. It also causes alterations in the physical and mental development of the child.
• Type III mucopolisaridosis or Sanfilippo syndrome.
• Type IV mucopolisaridosis or Morquio syndrome.
• Type VI or Maroteaux-Lamy syndrome.
• Type VII or Sly syndrome.