Hurler Syndrome is a rare metabolic disease that happens to be inherited. The primary adverse condition to having Hurler Syndrome is the fact that people suffering from the disease can't break down long chains of sugar molecues known as glycosaminoglycans or mucopolysaccharides. Now in laymen's terms, mucopolysaccharides are the components that make up the mucus in your body. This can lead to some serious issues if left untreated.
Hurler Syndrome is the most severe type of disease that falls into the category of mucopolysaccharidoses, or MPS. People with Hurler Syndrome don't create an enzyme known as lysosomal alpha-L-iduronidase. This particular enzyme keeps the production of mucus from the complex chains of mucopolysaccharides in check. Low or no production of the enzyme can cause certain symptoms that vary in severity.
The symptoms of Hurler Syndrome usually appear between the ages of 3 and 8. The overdeveloped amounts of mucus in the body can hurt internal organs. The mucus, can in essence, suffocate those organs. The heart and brain aren't safe either. Children with Hurler Syndrome can show mild to severe mental retardation, that only worsens with time because of the continued accumulation of mucus. Spine bone abnormalities, claw hand, stunted growth, deafness, and cloudy corneas are all possible effects of Hurler Syndrome. Heart valve issues are also common.
The treatment for Hurler Syndrome involves enzyme replacement therapy as well as bone marrow transplants. Sadly, children with Hurler Syndrome don't have long life expectancies do to the effects of added mucus on the nervous system and other interanl systems. Doctors actually suggest genetic screening for people with a history of Hurler Syndrome in their family. This is to best help them have healthy children in the future
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