What is Hunter Syndrome?

Hunter Syndrome, or Mucopolysaccharidosis, is an X-linked recessive genetic disorder that affects the body's ability to digest and break down certain types of sugars.

This disease occurs when a crucial part of a cell's machinery, called the lysosome, is unable to properly digest some molecules we need to function, leading to the accumulation of toxic substances inside the cell. Over time, these toxic substances poison the body and lead to serious complications such as mental retardation, skeletal changes and progressive deafness.

Little lysosome can't eat certain things though. And that's terrible :(

Hunter syndrome is a relatively rare disease, with approximately 1 in 150,000 males being affected, however, there are very few options available to treat this disease other than through symptomatic and palliative care.

Advances in medical technology and stem cell research have made stem cell transplants a potential avenue of treatment, while improvements in biological manufacturing have made enzyme replacement therapy a possible treatment option as well.

Now that you have a basic understanding of Hunter Syndrome, let's go into greater detail!

Next up: The Genetics of Hunter Syndrome

-Abraham

Sources:
http://fc06.deviantart.net/fs51/f/2009/289/c/1/Lysosome_Love_by_JynxMerlin.jpg
http://rarediseases.about.com/cs/huntersyndrome/a/022204.htm