Phenylketonuria Talk

Hey everyone!
As promised, I'm going to post more about Phenylketonuria.
I have already said that PKU is a rare, inherited metabolic disease that someone is born with only if either both parents are carriers (as is the case with my parents) or one of the parents actually have the disease themselves.

Early detection is important, as letting it continue on with no intervention will lead to brain damage. Not to worry, though! Every hospital in the United States is now required to include testing for PKU as part of the newborn screening. A PKU test is done within the first two days of the baby's birth. All that is done is pricking the heel of the baby and collecting some blood samples and sending them off to the laboratory for testing.

PKU is classified in a few different groups. The first group is called Classical PKU. This the most severe and common form of PKU. My brother, Max, belongs as part of this group. Their dietary restrictions are higher than either of the other groups. The second group is called Mild or Moderate PKU. Their dietary restrictions are in the middle range, more than the third group but not as much as the Classical form. The third group is called Benign PKU. My 18 year old sister has a best friend is part of this group, where there is no dietary restrictions, but still have the morphed gene of PKU.

Dietary restrictions are SUPER important. It matters very much how much protein one gets...as a Phenylketonuric does not have the ability to break down protein and Phenylalanine.

I will post more about what types of foods someone with PKU can and can not eat too much of, later.

Below are links to the websites where I got this information. If interested, you can check out more about PKU as well!

http://www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=tests-and-diagnosis
http://www.npkua.org/index.php/pku-facts

As always, thanks for reading!
<3

The introduction to Phenylketonuria

Hey everyone!

I just want to start out my journey of blogging with a topic that is very dear to my heart: Phenylketonuria. As I have mentioned in my first post, my 13 year old brother has PKU. I feel that it is important for as many people as possible to know and understand PKU, as anybody could be a carrier of the gene and not know it until their child is born with PKU. My family has never heard of the disease until my brother was born and sent us through a blind journey.

Phenylketonuria is an autosomal recessive genetic defect that affects in 1 in 10,000-20,000 in the United States. If untreated, PKU can lead to brain damage. There is no "cure" for PKU...it is a lifelong disease and is treated with powdered formula mix and dietary restrictions.

Max drinks his formula through a sippy cup/water bottle because, to be very frank, the formula STINKS. But it's where he gets his protein from. My brother has the most severe type of PKU that is called Classic Phenylketonuria. He can not have meat or a lot of dairy products. He has to watch his Phe levels in all that he eats. If he has too much Phe in his system, he will have the biggest mood swings and attitude I have ever seen.

I can NOT stress enough how important it is to control levels of Phe beginning at an early age.

That is as far as I'm going to go for tonight. It's getting late for me and I have work in the morning! I hope everyone has a good night and hope I have sparked enough interest in learning more about PKU.

Thanks for your time!
<3

Here is a picture of my baby brother and I!