Tuesday, May 5, 2009

Phenylketonuria

Phenlyketonuria is a very rare but very harmful disease. Phenlyketonuria is when a baby lacks the enzyme to convert phenylalanine into tyrosine after protein is consumed. When the symptoms are not treated, such as a musty odor in the skin, hair and urine, loss of weight from vomiting and chronic diarrhea, and sensitivity to light, Phenyalalnine then builds up in the blood stream and brain. It clogs it all up and can create central nervous system problems, and mental retardation. Only one out of 10,000 - 15,000 get this disease, but it is devastating. Phenlyketonuria shows up more in White and Asian people and could only be acquired  when your born. PKU, another name for Phenylketonuria, is a recessive allele. So in order to get this disease both parents need to be PKU dominant. If one parent held a PKU allele , and the other doesn't, the baby would be a PKU carrier but not show symptoms of the disease. PKU takes the lives of about 27,000 humans a year. Ivar Asbjorn Folling discovered the disease in 1934, and people have been trying to find cures for PKU ever since. One of the few treatments out there for a person with PKU are a life long, special induced protein diet. They have to be careful because you need protein to keep your body functioning and to build and fix cells. I feel sad to hear about this disease because, people who have it, have it for their whole lives and got it when they were born. I wish I could help people with PKU and make their lives more enjoyable. PKU awareness can help everyone and will help understand what people go through daily.

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