PKU

Our daughter, Avery has PKU so you'll see me write a lot about it as things come up.  It is a rare condition and not many people know about it, so here's a few questions we often get asked about PKU:

What is PKU?

PKU is a genetic metabolic disorder that makes it so that Avery can't process the amino acid phenylalanine (PHE), which is found in protein.  Too much PHE builds up in the brain and can cause severe brain damage.  However, with careful diet management, the PHE levels can be kept low so that a person with PKU will not have brain damage and can lead a normal life. 

Newborns are screened for PKU at birth because there are no symptoms of it and no other way to tell that a baby has it until it is too late.  

How did Avery get PKU?

Because PKU is genetic, both parents must be carriers of the PKU gene in order to pass it onto their child.  Each of our children will have a 25% chance of having PKU.  

What is the diet like?

The amount of PHE Avery can consume each day is prescribed by one of three dietitians we work with (they are all on my speed dial).  To figure out how much PHE she eats, we weigh all of her food and drinks and calculate the milligrams of PHE she consumes each day.  Her diet is often changing as she continues to grow and depending on what her recent PHE levels were. 

Avery can't eat high protein foods like meats, fish, dairy, nuts, gelatin, and whole grains.  She eats mostly all fruits and vegetables as well as some low protein foods specifically made for people with PKU.

She will have to take the medical formula for the rest of her life in order to supplement the protein she is not getting from foods.  The medical formula basically has all of the amino acids but PHE and she will get just as much PHE as she needs every day from the food she eats.

What if she eats something high in protein?

If Avery were to eat a high protein food, she wouldn't have any immediate reaction or anything.  The effects are more long term so it's not the same as having a food allergy.  From what I understand, if she ate something high in protein, she would then have to eat really low protein foods for a couple days (i.e. apples) to bring her PHE levels back down.  It is important that she not even taste restricted foods because then it will be easier for her to stay on her diet.  She can't miss something she's never had!  

Other resources for PKU:

www.pku.com

www.go-ipad.org

www.npkua.org

www.cookforlove.org

Find more of my posts about PKU here.