Phenylketonuria-Corey+Monagle

Phenylketonuria
 * Description: **

Phenylketonuria is a rare metabolic disorder that breaks down protein that the person takes in. If it is not treated shortly after birth it can lead to a destructive nervous system break down. Some teens living with PKU live normal lives but still need to watch their protein in take such as eating out. If they wanted to go to taco bell they'd have to order a taco with no beef. Or just stick to French fries or rice if they are out somewhere.

Phenylketonuria is a autosomal linked disease. This means that both parents can have no symptoms what so ever and still have a child that has this disease. If not treated the baby can suffer serious brain damage.
 * Inheritance: **


 * Punnett Square: **
 * Pedigree Chart: **


 * Symptoms: **

In adults there are no symptoms, most adults don’t even know they have it. But in infants it can cause severe brain damage, epilepsy and behavior problems.


 * Diagnosis: **

Phenylketonuria is diagnosed by a small blood sample from the baby. When the sample is taken the doctors can determine if the baby has Phenylketonuria.


 * Treatment: **

They need to switch the baby to a protein free diet. The infants that are diagnosed to Phenylketonuria are given a special dose of formula.

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 * Interesting Facts: **
 * Phenylketonuria is found in every 1 in 1500 babies. A Norwegian doctor founded Phenylketonuria. PKU is untreatable. **
 * Support Groups: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">Some support groups of PKU are: Children’s PKU network <span style="color: black; font-family: Times,serif; font-size: 12pt;"> National PKU network