Tuesday, May 5, 2009

Phenylketonuria (PKU)

Phenylketonuria is a very rare but harmful disorder. Phenylketonuria is caused from low levels of the enzyme phenylalanine hydroxylase (PAH). Discovered in 1934 by Ivar Asbjørn Følling, this disease has many symptoms. Musty odor of skin, hair, and urine are just a few. More serious symptoms include loss of weight, vomiting frequently, constant diarrhea, and skin problems such as eczema. The treatment for these disease is a life-long special reduced protein diet because too much protein in the diet will kill the victim. Sadly, even though there is a way to prevent death, about 27,000 deaths occur a year. Asians and Whites are more vulnerable to this disease. Thankfully, Phenylketonuria is very rare and not many get it. The chances of getting PKU is 1 in 10,000 so its a rare possibility if you get it. With much research, scientists have learned that PKU is a recessive trait, so if one of your parents have the trait, you might become a carrier of the disease. Personally, I find this disease terrible and I wish that no one had it. I feel bad for those who have PKU and I hope they are in treatment. Phenylketonuria is a dangerous disease, but if treated, the patient can have a normal lifestyle.

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