Phenylketonuria

In class we researched Genetic Disorders. I researched Phenylketonuria which is a disease where your body can't use proteins correctly. One enzyme doesn't function properly and can't separate amino acids. The body can't convert "Phe" into tyrosine. The "Phe" builds up in the blood. Some symptoms are skin rash, irritable behavior,excessive restlessness, mental retardation, seizures and autism. A person inherits Phenylketonuria from their parents. It is a recessive gene. The only treatment for this disease is having a diet low in "Phe" which is found in many proteins. People with Phenylketonuria can live normal lives as long as they are on the right diet. One in every 70 people is a carrier for Phenylketonuria. One in every 15,000-20,000 infants born in the United States have Phenylketonuria. I feel bad for anyone who has this disease because there is no treatment. They have to live with this for the rest of their life. This disease is pretty common because 1 in 70 people are carriers and they might not even know. I also feel bad for parents of the infants who are born with Phenylketonuria. They child may have autism or mental retardation from this disease. Babies should be screened when they are born to check for this disease because when it is discovered sooner it can be kept under control and not turn into mental retardation or other things. 

I got my information from:

http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.noah-health.org/en/genetic/
http://www.genome.gov/10001204