First of all I think it is great that you want to learn more about your niece’s PKU. Anyway, I’ll give you a short description of PKU and then if you have any other questions then feel free to ask and I’ll be sure to answer.
Okay, PKU is a genetic disorder that occurs in about one out of every 15,000 babies. Basically PKU means that Phenylalanine Hydroxylase is either missing or only partically works. I know…what the heck is Phenylalanine Hydroxylase right? It’s an enzyme that is found in the liver that is used to turn an amino acid called Phenylalanine into tyrosine (which is an essential amino acid that people need to grow). Phenylalanine Hydroxylase is also abbreviated PAH
So because PAH is either missing or doesn’t fully work in Phenylketonurics they have to monitor how much Phenylalanine or Phe they eat, which will be what your niece will have to do for the rest of her life. Phenylalanine (or Phe) is an amino acid that is found in protein. What I mean when I say that your niece will have to monitor her Phenylalanine intake is that she won’t beable to eat as much Phe as somebody without PKU. So chances are she won’t beable to eat things like meat, eggs, fish, dairy products, and just things with alot of protein. She’ll mainly eat fruits, veggie and things low in protein in measured amounts. She’ll be on what is called a Low Protein Diet.
Also, to make sure she isn’t eatting to much Phe she will have to have a blood test which will be a heel prick and a few drops of blood on a card to see how much Phe is in her blood, but when she begins to walk she’ll probably begin to get pricked in her finger instead.
The reason she’ll need to be on this diet is because if she eats to much Phe her body basically will work to slow and won’t beable to process all of the phe into Tyrosine. Tyrosine usually gets sent to the brain to help you grow but any extra Phe in your niece that she wasn’t able to turn into Tyrosine will get sent to her brain with the Tyrosine, but her brain won’t beable to use the Phe like it uses the Tyrosine. Since her body won’t beable to use any extra Phe it will basically just sit in her blood stream and in time it will build up in her blood and pretty much clog her blood flow. This will limit the blood and oxygen flow to her brain that could cause things like headaches, tremors/shakes, lack of energy, eczema/skin rash, poor concentration and eventually after a long time of to much Phe it could cause seizures or mental retardation. BUT PLEASE DON’T PANIC! I DON’T WANT TO WORRY YOU! If your niece follows her special diet and keep she Phenylalanine blood levels in a good range she will be just fine and can function like any other child.
Because she won’t beable to eat things high in protein she’ll be missing alot of important nutrients so she’ll have to take a special Protein substitute that will give her all the nutrients she will need. It usually is just a special formula (kind of like a baby formula) but as she gets older alot of other options will come out.
Sometimes people like to compare PKU to diabetis and I guess they are similar in some ways. So to put it sweet, simple and to the point: nYour niece will be on a speical low protein diet, she’ll have to check her blood, take her special protein subsitute and go in for a few more doctor check ups then most kids (usually with a doctor who specializes in genetic disorders and some sort of dietitian).
I hope this made sense, and if you have any question at all just ask and I (or anybody else here) will try to answer it as well as we can. nBreanna n15 w/Classical PKU