Phenylketonuria (PKU) Support Group

i don't know of any specific answer to your question but i was diagnosed when i was 8 and wasn't on diet until 2004 since that time i struggled with controling my levels. i was recently stsrted on kuvan-worked wonders( once i got my asthma under reasonable control) i find that i'm able to eat more"normal food" and my levels are actually too low. i heard about a meter( like diabetics use) to test your Phe without having to mail a blood sample and then wait a week or two. i haven't heard anything recently about it , but last i heard they were looking for someone to manufacture the test strips then ... nothing

Well, thanks for sharing what you know. I wonder why you weren't diagnosed until you were eight. Were you not born in a hospital? What country are you from? Do you have a certain kind of PKU that develops later in childhood?

when i was diagnosed testing for pku wasn't a routine proceedure and pku was considered VERY rare. whan i was diagnosed ( in 1968) it was only because my yooungest brother( who was then 3) was getting tested because he wasn't developing like a normal 3yr old should. i went along and my mom had the presence of mimd to say to them," she's having trouble in school test her too."

To give you a quick summary those who have PKU are missing the enzyme phenylalanine hydroxylase or PAH. In most people PAH breaks down an amino acid called phenylalanine into tyrosine. Because people who have PKU do not have PAH, they cannot break down phe. If they eat too much phe it can accumulate in their blood stream and become toxic to the brain.

The main treatment for PKU is a diet that must be adhered to for life. Because phenylalanine is found in protein, the diet is low in protein. The diet excludes many high protein foods including meat, poultry, dairy, beans, nuts, and most grain products. The diet usually consists of fruits, vegetables, starchy foods in measured amounts, and specailly ordered foods. People who have PKU must also drink a special metabolic drink, often called a metabolic formula, to get the nutrients that they are not getting through their diet. They have to perform regular blood tests to monitor how much phenylalanine is in their blood.

Today another treatment option has become available. Sapropterin dihydrochloride or Kuvan is a new medication that can activate the PAH enzyme. By activating this enzyme Kuvan helps the body to break down more phenylalanine, which means people taking Kuvan can eat more phenylalanine or protein, and they can have a less restrictive diet. Not everyone who has PKU responds to Kuvan. It does not work for everyone. You can find more information on Kuvan at kuvan.com.

Two other good resources to check out would be pku.com and pkunews.org

~Breanna Hardy 18 CPKU

Thanks for your help.