- Types of mucopolysaccharidosis
- Possible causes
- What symptoms
- What is the diagnosis
- How the treatment is done
Mucopolysaccharidosis is characterized by a group of inherited diseases that result from the absence of an enzyme, whose function is to digest a sugar called mucopolysaccharide, also known as glucosaminoglycan.
This is a rare disease and difficult to diagnose, because it presents symptoms very similar to other diseases, such as enlarged liver and spleen, deformities of bones and joints, visual disturbances and respiratory problems, for example.
Mucopolysaccharidosis has no cure, but a treatment can be performed that slows down the evolution of the disease and provides a better quality of life for the person. Treatment depends on the type of mucopolysaccharidosis and can be done with enzyme replacement, bone marrow transplants, physiotherapy or medications for example.
Types of mucopolysaccharidosis
Mucopolysaccharidosis can be of several types, which are related to the enzyme that the body is unable to produce, thus manifesting different symptoms for each disease. The different types of mucopolysaccharidosis are:
- Type 1: Hurler, Hurler-Schele or Schele syndrome; Type 2: Hunter syndrome; Type 3: Sanfilippo syndrome; Type 4: Morquio's syndrome. Learn more about mucopolysaccharidosis type 4; Type 6: Maroteux-Lamy syndrome; Type 7: Sly syndrome.
Possible causes
Mucopolysaccharidosis is an inherited genetic disease, which means that it passes from parents to children and is an autosomal recessive disease, with the exception of type II. This disease is characterized by the inability of the body to produce a certain enzyme that degrades mucopolysaccharides.
Mucopolysaccharides are long-chain sugars, important for the formation of various body structures, such as skin, bones, cartilage and tendons, which accumulate in these tissues, but which need to be renewed. For this, enzymes are needed to break them down, so that they can then be removed and replaced with new mucopolysaccharides.
However, in people with mucopolysaccharidosis, some of these enzymes may not be present for the breakdown of mucopolysaccharide, causing the renewal cycle to be interrupted, leading to the accumulation of these sugars in the lysosomes of the body's cells, impairing their functioning and giving rise to other diseases and malformations.
What symptoms
The symptoms of mucopolysaccharidosis depend on the type of disease that the person has and are progressive, which means that they get worse as the disease progresses. Some of the signs and symptoms are:
- Enlarged liver and spleen; Bone deformities; Joint and mobility problems; Short stature; Respiratory infections; Umbilical or inguinal hernia; Respiratory and cardiovascular disorders; Hearing and visual problems; Sleep apnea; Changes in the Central Nervous System; Increased head.
In addition, most people who suffer from this disease also have a characteristic facial morphology.
What is the diagnosis
Generally, the diagnosis of mucopolysaccharidosis consists of evaluation of signs and symptoms and laboratory tests.
How the treatment is done
Treatment depends on the type of mucopolysaccharidosis that the person has, the state of the disease and the complications that arise and should be done as soon as possible.
The doctor may recommend enzyme replacement therapy, bone marrow transplantation or physical therapy sessions, for example. In addition, complications caused by the disease must also be treated.
