Canavan Disease

In class today, we were assigned to look at someone else's blog and write a response  blog. The blog i chose was by "Jazzdncr" and the disease they blogged about is called Canavan disease. This disease effects the body making the is a genetic mutation on chromosome 17 that causes a deficiency of an enzyme called aspartoacylase and it causes healthy brain tissue to degenerate. Now that i've read this blog i feel lucky that i am not effected with is tragic disease.  Now i feel like i should go out and study this disease, you never  know maybe when i am older i can find a cure. From taking the information i know i am able to tell you that this disease is fatal and serious. If you are interested in learning about this sad and tragic disease CLICK HERE and be prapared for an interesting blog.

 

Phenylketonuria

The genetic disorder is was assigned is called Phenylketonuria. What happens inside the cell is one enzyme dosen't function properly and cannot seperate amino acids. The "phe" builds up in the blood and the body connt convert "phe" into the tyrosine. Phenylketonuria is a genetic disorder that is only possible to have if both parents are carries. The majority of people who have this disease are infants. The only way of treating this disease is by going on a deit low on "phe". Because babies usually have this disease they are given special formula. Blood work is often required to be able to tell how much "phe" is needed. Also, in the diet givin by doctors it says to cut down on protiens. Their are many symtums to this diese as so, skin rash, excessive restlessness, irritable behavior, mosty body order, develop mental retardation"if not on diet", seizures, and lighter skin and hair color. If doctors do not detect deise in time infants will die. For people in the united states alone 1 person in every 70 people is a carrier with "pku" one in every 15,000 to 20,000 are infants in the USA are effected. Sadly, this diese dose not have a cure theirfore, if you are born with this diese you will have it for the rest of your life.