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Mucopolysaccharidosis

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Mucopolysaccharidosis

MVSAT 2024

Due to the abnormal accumulation of mucopolysaccharides, some metabolic disorders can be caused and these are known as mucopolysaccharidosis. The mucopolysaccharides are also known as glycosaminoglycans. These are the long and linear polysaccharides that are made up of repeating sequences of disaccharide units. This means there are two sugar units used in the creation of the mucopolysaccharides. 


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One of the two sugar units is amino sugar and the other is uronic sugar. An exception to this pattern is seen in keratan, where the uronic sugar constituent is replaced by galactose. In this article, students are going to learn more about mucopolysaccharides examples and other details. 


Mucopolysaccharides Uses 

On the basis of the basic core structure assigned to the disaccharides, they can be classified into four different groups. These are known as Heparin sulfate or Heparin, Hyaluronic acid, Keratan sulfate, and dermatan sulfate or chondroitin. 

One primary mucopolysaccharides function can be seen in the form of Heparin. This group is mostly stored in the Mast cells granules. The use of heparin is as an Anticoagulation agent. There are different functions associated with heparin such as cell growth regulation, the proliferation of cell growth, cell adhesion and so much more. 

Dermatan sulfate tends to interact with the different growth factors of heparin such as the Fibroblast growth factor and it is used in the process of wound repair as well as cellular proliferation. It also has a very important role to play in brain development. Another major mucopolysaccharides function is properly demonstrated with the use of Keratan sulfate. This group is used for the hydration of tissues. They tend to regulate the entire process of macrophage adhesion as well. 

The cells of mucopolysaccharides also help in the building of different areas such as tendons, cartilage, skin, and other connective tissues. 


What is Mucopolysaccharidosis? 

The mucopolysaccharidosis can be defined as a group of different metabolic diseases that are caused due to the absence of particular enzymes in the body. The enzymes that are absent from the body are the ones that are responsible for the breaking down of molecules such as mucopolysaccharides. These cells are found mostly in the joints that are responsible for the lubrication of the human joints. 

People who suffer from the mucopolysaccharides disorder tend to have a deficiency of at least one of the 11 different enzymes that are required to break the mucopolysaccharides down. Over time, these cells of mucopolysaccharides tend to collect themselves in the blood and the cells as well as the spinal cord and the brain. Since the result is pretty much permanent, it results in progressive damage of the cells that in turn affects the appearance, organ systems, and certain physical abilities of the individual. 


Who are at risk? 

Since these are seen as autosomal recessive disorders, the individuals that have the defective gene transferred from both parents will be affected. In case the parents have a defective gene each, there is a ¼ chance that the child will have the affected gene as well. So, it can be said that genetics is one of the major causes of mucopolysaccharides disorder in people. There are some other factors such as the family history of the person. It is also seen that the parents that don’t carry the symptoms of the disease but have the gene can transfer it to the children. 


What are the Sign and Symptoms of Mucopolysaccharides Disorders?

There are many features associated with the disorders but the degrees of severity are differentiated. While these features might not be seen from the period of birth as the effects are on the skeletal structure and the connective tissues, there is a certain age at which the symptoms begin to present themselves. 

The disease causes significant damage to the neurons. Impaired motor function and pain can be due to the compression of nerve roots. Some individuals also show signs of intellectual disability while others are normal. Some individuals also have problems associated with depression, hearing impairment, hyperactivity and so much more. 

The physical symptoms tend to include coarse features in the facial structure such as thick lips, enlarged mouth, flat nasal bridge, and much more. Some symptoms also include dysplasia, thickened skin, skeletal irregularities, incontinence, hernias, excessive hair in the body, etc. 


Various Types of Mucopolysaccharides Disorders

Some of the different forms of disorders due to the mucopolysaccharides are mentioned below. 

  • MPS I H (Hurler syndrome)

  • MPS IX (hyaluronidase deficiency)

  • MPS VII (Sly syndrome)

  • MPS VI (Maroteaux-Lamy syndrome)

  • MPS I S (Scheie syndrome)

There are different mucopolysaccharides present in the body of human beings. Some common mucopolysaccharide examples are keratan and heparin. These long chains of sugar tend to help in several processes related to tissue growth and cell development. However, due to overaccumulation of the mucopolysaccharides, certain individuals have the chance of developing certain disorders that are known as mucopolysaccharides disorders.

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FAQs on Mucopolysaccharidosis

1. How can mucopolysaccharidoses be diagnosed? 

There are certain clinical tests and examinations that take place in order to detect the excess production of mucopolysaccharides. A urine test is done first in order to diagnose the MPS diseases. Enzyme essays that include the testing of different cells or the blood samples of the person in order to find out the enzyme deficiencies are a very important part of the examination. Through this particular step, the experts can actually make a very accurate and definitive diagnosis. In the case of prenatal diagnosis, the chorionic villus sampling process or amniocentesis process is used. These processes help in identifying whether the fetus is perfectly healthy or has been affected by the disorder.

2. What is the treatment for mucopolysaccharidoses? 

Unfortunately, these disorders don’t have any cure yet. However, certain methods of medical care are currently being used in order to treat the important systemic conditions and improve the lives of people who are suffering from the conditions. Surgical methods are used in order to facilitate the draining of the cerebrospinal fluid accumulated in the brain. This helps in freeing the nerve roots that are compressed by the skeletal abnormalities. Also, corneal transplants tend to improve vision in people. There is enzyme replacement therapy used for certain forms of the mucopolysaccharides disorder and other methods of treatment are also in the process of testing.