Phenylketonuria Research Paper

Imagine not being able to eat meat, ever. Phenylketonuria, is an autosomal recessive trait that causes the levels of phenylalanine to rise in the blood, it causes inability to digest proteins (NIH). Phenylketonuria is also referred to as PKU, Folling`s disease, and PAH deficiency. Delayed mental and social skills, seizures, and tremors are all symptoms of PKU. Behavioral problems, skin rashes, and psychiatric problems are also symptoms. Babies who are born with PKU slowly develop the symptoms, unless if they are treated. PKU is treated by a special diet, and if it is caught early, people affected can live a normal life. Since PKU is an autosomal recessive trait, both parents have to carry the gene. Both of the parents have to have
Doctors check for this mutation when babies are first born now. If anything seems un-normal in the first screening, then the doctor arranges additional testing to be sure. The tests include blood, hearing, and heart screenings. In the blood test, the doctor uses a needle and takes a couple drops of blood from the heel of the baby. They normally do these twenty four hours after the baby has drunk milk, to see if there are any negative effects (Healthline Networks Inc.). If the screenings show that the baby has PKU, he or she can be treated early so they can grow up healthy
After someone is diagnosed with PKU, they are put on a special diet. This diet focuses on foods that are very low in the amounts of the amino acid phenylalanine. Milk, eggs, meat, and other common foods all contain phenylalanine. Aspartane, an artificial sweetener, also contains phenylalanine. These foods should be avoided. Lofenalac is a special formula made for infants that have PKU. They can use it all throughout life as a source of protein, not just when they are infants (Josiah Macy Jr. Foundation). It is low in phenylalanine and is balanced enough for the other remaining amino acids. Also, to help improve neurological development, taking supplements such as fish oil to replace the long chain of fatty acids missing from the basic phenylalanine is beneficial. An example of a baby who has been treated this way for PKU is Rhona. Rhona`s mother knew that her husband was a carrier for PKU but she didn’t think that she could be one too. “I was assured by everyone the chances of me being a carrier too, was highly unlikely. To quote the specialist, ‘it’s like winning the lottery twice!’” (The UK National Screening Committee ). Their family had the heel-prick blood test done and found out that Rhona had PKU. She is three years old now and is doing great, although it’s hard to find exciting meals for her. Rhona is also developing normally (The UK National Screening Committee