PKU Webquest

Phenylketonuria is a long word! In my blog whenever I mean to say Phenylketonuria I am going to say PKU. To help understand this diesese we were given some questions and websites to look at. There was so much information on the websites that I couldn't put it all down, but I got as much as I could. Here are the links to the sites that Mr. Ludwig gave us.

Your Genes, Your Health: Phenylketonuria

http://www.ygyh.org

NSPKU Home Page

http://www.nspku.org

Texas Department of Health Genetic Disorders

http://www.dshs.state.tx.us/newborn

Phenylketonuria - The Genetics

http://willroberts.com/pku/

PKU is a condition where phenylalanine builds up in the body. It is a very rare disease and is inherited. Phenylalanine is a building block of protein and is a natural substance. Mostly all babies get tested for PKU when they are just born. The test used is a heel prick test.

To help us understand PKU better we were given questions to try and answer. They are kind of hard to understand at first but once you get to reading the sites it is easier.

1. What enzyme is most commonly defective in people with phenylketonuria?

The most enzyme that is most commonly defective in people with phenylketonuria is the PAH Enzyme.

2. What reaction does this enzyme catalyze? (What is the substrate and what product is produced?)

A person infected with PKU can get dangerously high phenylalanine in the brain. This can cause mental retardation and epilepsy.

3. Describe the symptoms of phenylketonuria?

The symptoms in children that have undetected PKU  are smaller then normal head, lighter skin and hair then unaffected family members, Epilepsy, and Mental Retardation.

4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?

The symptoms of PKU are caused by the lack of the enzyme to break down the amino acid which builds it up. The build up of the amino acid causes the symptoms. The state of high levels of phenylalanine is called Hyperphenylalaninaemia. (long word I know!)  Hyperphenylalaninaemia can cause brain damage.
 

5. How common is phenylketonuria? How is it treated?
PKU is found in about 1 in 10,000 births in Caucasians and East Asians. There are some ethnic groups that have higher rates. For example PKU is extremely rare in Africans. 
As soon as children are diagnosed they must keep a low- protein diet and stay on the diet as long as they possibly can. Most experts recommend that people infected with PKU diet for life. Phenylalanine is found in the protein part of food. This is why the treatment is to keep a low protein diet. Foods that are not in this diet are meat, cheese, poultry, eggs, and milk.