Sunday, March 23, 2014

Hunter Syndrome: Causes and Effects

This disease is caused by a lack of an enzyme or the lack of the function of that enzyme. It is said that the disorder is caused by a defective chromosome that was passed down to the child from the mother. This means that the mother was a carrier for this disease. This disease is found nearly always in males and can be detected as early as 18 months. The type of symptoms that people have range from almost nonexistent to very severe. The symptoms don't show up right away, they develop as the child does. 

Some Symptoms:
- Progressive loss of hearing
- Carpel Tunnel Syndrome
- Stunted Growth
- Enlarged Internal Organs
- Claw-like Hands
- Delayed Development
- Vision Impairment 
and many more



The enzyme that is missing is called iduronate sulfatase. In people without this disease, this enzyme is found in the lysosomes. It helps break down what are called glycosaminoglycans. 
"Glycosaminoglycans are linear polysaccharides, whose disaccharide building blocks consist of an amino sugar (N-acetylglucosamine, glucosamine that is variously N-substituted, or N-acetylgalactosamine) and a uronic acid (glucuronic acid or iduronic acid) or galactose."  - http://www.ncbi.nlm.nih.gov/books/NBK1900/
Without the enzyme, mucopolysaccharides build up. This causes damage to the connective tissues. This syndrome is also known as a lysosomal storage disease. 

There are many risk factors that come along with this disease. It can take longer for someone to recover after an illness. Cardiovascular issues are prominent as well as skeletal issues. This disease can cause seizures and nervous system damage.
People obtain this disease from the carrying mother. It doesn't have many effective treatments, and is also progressive. It gets worse as time goes on. Since there is no exact cure for this disease, doctors tend to target the symptoms. This can help against an outburst. Gene therapy, enzyme therapy and bone marrow transplants are common treatments. 


No comments:

Post a Comment