Phenylketonuria (PKU)
Grayson Seevers
[fen-l-kee-toh-noo-r-ee-uh]
is a genetic disorder that causes your body to become unable to breakdown the amino acids, phenylalanine. This enzyme is found in all proteins and many foods that we eat.
Causes & Complications
The only way you are able to have Phenylketonuria is by getting both genes that carry it from your parents. A problem your body develops from this congenital disease is, not having enough of the enzyme needed to break down Phenylalanine. Too much of this can cause severe intellectual disabilities, seizures, heart defects, developmental delays and much more.
Testing & Treatment
There is not yet a cure for PKU, however, there is a way to see if your baby has it before you bring it home. A heal-prick is done to collect a blood sample and scan it for the disease. This test is done 1-2 days after they've been delivered.
PKU is treatable mainly through, "dietary manipulation." This when you are limited to the types of food you eat. The reason for using this method is because many of the foods eaten contain the enzyme that, in this case, is not able to be broken down. With this form of treatment you are not allowed to eat foods with a high protein content. Another form of treatment is drinking a PKU formula called, Kuvan. Kuvan is used to build a higher tolerance for phenylalanine. The formula is to be drank in-between snacks and meals.
Life Outlook & Prevention
Although you lifespan is not effected by this disease, you must develop a daily routine that could become bothersome. Because the main things you can do to maintain PKU are dealing with proportioning and monitoring your foods, you have to record the amount of foods and the type of food you eat, every time you consume anything. These records will have to be sent to your doctor on a regular basis. Besides the constant recording and monitoring, the other main downfall of this disease is, the only to prevent it from being passed on to others is by not having your own children.
Works Cited
DK, Gavrilov. "Phenylketonuria (PKU)." - Mayo Clinic. Web. 14 Oct. 2015. <http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/definition/con-20026275>.
"Phenylketonuria (PKU) Overview: Causes, Symptoms, Diagnosis, and Treatment." WebMD. WebMD, 2008. Web. 14 Oct. 2015. <http://www.webmd.com/children/tc/phenylketonuria-pku-topic-overview_>.