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.
It is a rare and difficult disease to diagnose because it has symptoms very similar to other diseases, such as enlarged liver and spleen, bone and joint deformities, visual disturbances and breathing problems, for example.
- Mucopolysaccharidosis has no cure.
- But treatment can be performed that slows the progression 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.
- Physical therapy.
- Or medications.
- For example.
Mucopolysaccharidosis can be of several types, which are related to the enzyme that the body is unable to produce, thus presenting different symptoms for each disease.The different types of mucopolysaccharidosis are:
Mucopolysaccharidosis is an inherited genetic disease, which means that it is passed down through families and is an autosomal recessive disease, with the exception of type II, which is characterized by the body’s inability 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 need to be renewed, for this enzymes are needed to degrade them.so that they can then be removed and replaced by new mucopolysaccharides.
However, in people with mucopolysaccharidosis, some of these enzymes may not be present for mucopolysacchaid degradation, causing the renewal cycle to be interrupted, resulting in the accumulation of these sugars in the lysosomes of the body’s cells, altering their functioning and leading to other diseases and malformations.
Symptoms of mucopolysaccharidosis depend on the person’s type of disease and are progressive, meaning they get worse as the disease progresses, some of the signs and symptoms are:
In addition, most people with this disease also have a characteristic facial morphology.
Diagnosis of mucopolysaccharidosis usually involves an evaluation of signs and symptoms and laboratory tests.
Treatment depends on the person’s type of mucopolysaccharidosis, the condition of the disease, and the complications that occur and should be performed as soon as possible.
Your doctor may recommend enzyme replacement therapy, bone marrow transplants, or physical therapy sessions, for example, in addition to complications caused by the disease.