Hunter Syndrome BY Megan George

Hunter Syndrome is a rare X-linked disease that is named after physician Charles A. Hunter. This disease is also known as Mucopolysaccharidosis. This disease falls under a lysosomal storage disorder. This disease was described in 1917 but most discovers were made in the 1940s to more resent.

Hunter Syndrome is cause by a deficiency in the lysosomal enzyme iduronate-2-sulfatase this causes elevated plasma levels of TNF-a and high levels of TNF-a

The protein that is produced by iduronate-2-sulfatase is glycosaminoglycans or (GAG)

By the extreme amount of GAG in the body it causes symptoms of pain in the joints, stiffness, physical dysfunction, a short stature, can cause an enlarged tongue, tonsils and adenoids resulting in upper respiratory obstruction. These usually are shown at 2 to 4 years old.

Hunter Syndrome is a recessive trait that is inherited from the mother. There is a 25% of the child to have or carry Hunter syndrome when the mother has the gene. Hunter syndrome is mostly in males but there has been a few cases that a female has had Hunter syndrome. Hunter syndrome has been found in all ethnic groups. It is inherited on the X-link.

To be diagnosed with Hunter syndrome kids have genetic testings or a urine test for GAG.

Hunter syndrome has two ways to be treated with hematopoicietic cell transplantation or enzyme replacement therapy.

Sadly for the kids that are diagnosed with Hunter syndrome they will likely die in their second decade of their life.

There is current research enzyme replacement therapy and many are being to study stem cell transplants.

Work cited

"Hunter Syndrome." Check Orphan, www.checkorphan.org/diseases/hunter-syndrome. Accessed 4 Feb. 1017.

Polgreen, Lynda E., et al. "Pilot study of the safety and effect od abalimumab on pain, physical function, and musculoskeletal diseass in mucopolysaccharidosis types l and ll." PubMed Central, www.ncbi.nlm.nih.gov/pmc/articles/PMC5238608/. Accessed 3 Feb. 2017.

Wraith, J. Edmond, et al. "Initial repost from the Hunter Outcome Survey."Genetics in Medicine, www.nature.com/gim/journal/v10/n7/full/gim200879a.html. Accessed 2 Feb. 2017.

Pictures

https://www.youtube.com/watch?v=EryatDgmjog

http://www.mayoclinic.org/diseases-conditions/hunter-syndrome/symptoms-causes/dxc-20165662

http://hunterssyndrome.weebly.com/mucopolysaccharidosis.html

http://armagen.com/our-focus/hunter-syndrome/

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