Sunday, August 4, 2013

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

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