History Of Hunter SyndromeHistory Of Hunter Syndrome
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History Of Hunter Syndrome

Hunter Syndrome is a genetic disorder caused by the deficiency of an enzyme called iduronate-2-sulfatase (12S). This is a condition which generally affects males.  This disease was first discovered in 1917 when two brothers were found to be having this disorder.

 

This was first described by Charles A. Hunter who was a Professor of Medicine in Canada. This disease has been named after him.

In the first case that Charles Hunter pointed out, the brothers were young, one was 8 years old and the other was 10 years old. Though they were undersized, their heads were large and their abdomen was distended because of an enlarged spleen. The motion of their joints was very limited and they could not raise their hands above their head. They had difficulty in breathing and while sleeping there would be heavy snoring. Both the boys had hearing impairment, but despite all this, they were of normal intelligence. Several years later Gertrud Hurler reported two more cases with the same symptoms as those reported by Charles Hunter. But in case of Hurler’s patients, they also had mental retardation and corneal clouding. The first mention of "mucopolysaccharidosis” was done by Brante, in 1952. This is also the other name of Hunter Syndrome

Researchers have found out two types of Hunter Syndrome, one being mild and the other being severe. However, there are also certain patients whose condition though not severe may not fit in the category of mild also. However, the various options of treatment are still being discovered by researchers as the current treatment is only that of bone marrow transplant and enzyme replacement therapy.

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History Of Hunter Syndrome

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Hunter-Syndrome-Treatment      Hunter syndrome is a hereditary disease. There is a breakdown of a mucopolysaccharide where a chemical that is widely distributed in the body outside of cells gets defected. Deficiency of I2S or technically speaking, lack of the enzyme iduronate sulfatase is the main reason for this metabolic abnormality that leads to Hunter syndrome. Without this enzyme, mucopolysaccharidosis collected in various body tissues, cause damage. More..