Phenylketonuria (PKU)

By: Joseph Patty

They're just like YOU and ME :D

What is Phenylketonuria (PKU) anyway?

PKU is a rare metabolic disorder in which a newborn baby is unable to break down an amino acid called Phenylalanine. Phenylalanine is one of many important porteins in the body that helps you grow and develope.

Where did PKU come from?

PKU was first discovered in 1934 by a docter in Norway. Asbjorn Folling began to notice that mentally retarded patients began to develope a strange body odor. He then tested their urine and found that they had high levels of a chemical called phenlketone. Thats how the disease got its name: Phenylketon-uria.

What are some symptoms of PKU?

A person with PKU may often suffer from seizures along with spontaneous jerk-like movements in the arms and legs. If PKU goes untreated or is not properly taken care of, the person with this disorder may develope mental retardation.

What are the causes of PKU?

PKU is not something you can catch the later you grow up. PKU is only inherited. In order for it to be inherited, both parents must pass down the defective gene for the baby to have it. This specific type of inheritence is called autosomal recessive trait.

How is it diagnosed?

In the U.S. it is required that all newborns are checked for PKU. Within the first 48-72 hours a baby is born, it will have a few drops of blood taken in for testing. If the results come back positive then further tests will be made. (More blood tests and some urine tests.)

Is there a treatment or cure?

PKU IS TREATABLE! In order to have a less severe case, you MUST follow a strict diet that includes low levels of phenylalanine. The diet requires cooperation from a doctor, both parents and the child. The diet asks that you stay away from large amounts of eggs, milk and other common foods that has phenylalanine and aspartame. For infants, there is a special type of formula called Lofenaiac which provides protein. Fish oil pills, iron pills or carnitine can replace fatty acids and can improve neurologic developement.

How is PKU prevented?

Before deciding to have a child, you can have tests done to see if you are a carrier for PKU genes. One way is to take a special enzyme that will tell if you are a carrier. If you are already pregnant, then screenings can be done to look at the fetus. Pregnant women should follow a low phenylalanine diet so that certain products don't build up. Even if a parent is not a carrier, the build up of too much phenylalanine can give the baby the PKU gene.

Current Research

The University of California, Los Angeles developed Kuvan. Kuvan was designed to reduce the level of phenylalanine in a PKU patient. Kuvan has proven to be effective in 20%-50% of patients. While taking Kuvan, PKU patients will be able to eat "normal" foods and finally be satisfied with no consequences.

Foundation that supports PKU

http://www.tennesseepku.org/

Educational Video

http://www.youtube.com/watch?v=NFiNsq6i28s&feature=related

Quiz!!
1.) PKU is a metabolic disorder brought on by being unable to break down what protein?
2.) Who is the one that began to study this because of "weird" body odors?
3.) Name 3 symptoms of PKU.
4.) Is PKU treatable, cureable, or neither? If treatable, how?
5.) The University of California created what to treat PKU? What does this do?

Sources (All articles):

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002150/http://www.pku.com/What-is-PKU/history-of-phenylketonuria.phphttp://www.nytimes.com/2007/12/14/health/14genetic.html?_r=1