MPS disease (also known as Hurler Syndrome), a rare congenital disease, progresses with a picture that affects the whole body and can result in death. We told you everything you need to know about MPS disease in this article!
What is MPS?
Mucopolysaccharidosis or Hurler Syndrome is a congenital metabolic disease. It occurs quite rarely, with its occurrence progresses very heavily. In the later stages of the disease, there is a high probability of encountering a stage that progresses to organ failure and death.
It is known that the problem that causes Hurler Syndrome, which shows genetic features, is the deficiency of the enzyme called alpha-L-iduronidase.
What are the symptoms of MPS disease?
Babies with Hurler Syndrome do not show any symptoms until about the first 6 months. Within 6-12 months, some changes begin in the facial features. MPS, which starts to show itself with coarsening and deformation in the lines, starts to cause the following problems later on.
- Enlargement of the liver and spleen
- Blurred vision due to corneal problems,
- temporary deafness,
- Disturbances in skeletal development (such as prominent and prominent eyebrows, large tongue)
- Nasal congestion, sleep apnea, heart and lung failures due to thickening of the soft tissues in the respiratory system due to enzyme deficiency,
- Growth retardation after 2-3 years of age ,
- skull disorders,
- stiffness in the joints,
- hydrocephalus ,
- Umbilical and inguinal hernias ,
- Restriction of motor skills due to joint stiffness and bone problems,
- Increasing heart problems.
At the end of these developments, the disease may result in death before reaching the age of 20. Even if this does not happen, the child will need constant special care.
How is MPS disease diagnosed?
When one or more of the above-mentioned symptoms begin to appear, it is necessary to apply to a health institution without delay. At this stage, if it is thought that the child has a sign of Hurler Syndrome, the rate of enzyme activity called alpha-L-iduronidase is monitored in leukocytes and skin fibroblast cultures, and if it is low, it is determined that the disease is present.
In addition, chorionic villus biopsy (CVS) and amniocentesis tests during pregnancy can determine whether the disease is present in the baby.
How is Hurler Syndrome treated?
For MPS disease, a treatment method is mostly followed to reduce the symptoms that occur. The patient’s standard of living can be increased by methods such as controlling heart diseases, hernia surgery, using breathing tubes, and oxygen support.
Efforts to eliminate the deficiency of the alpha-L-iduronidase enzyme is also a tried method. However, this enzyme does not show the expected success because it is very difficult for this enzyme to attach to the nervous system from the blood.
Apart from this, bone marrow and stem cell transplantation is another treatment method used for MPS.