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What is a PKU? What is this test for?

post #1 of 3
Thread Starter 

What is a PKU? What is this test for?

What are they looking for with this test? My baby had this done today.

http://www.youtube.com/watch?v=vQSZJ_Bj0gY&feature=youtube_gdata_player


Edited by Brishenn - 12/17/10 at 11:04pm
post #2 of 3

The PKU test test for several metabolic disorders (processing certain proteins). the disorders that it tests for are completely a non issue with a special diet, but can cause major issues, like permanent brain damage, if left undiagnosed. 

post #3 of 3

Back in the day, the only thing tested in newborns was PKU disease.  Now, up to or beyond 40 different metabolic and genetic disorders are tested for in the test, which is now known as Newborn Screening (though most still call it the PKU test).  PKU is a protein metabolism disorder--some of the others are various sugar metabolism or fatty acid metabolism disorders.  Congenital hypothyroidism and cystic fibrosis are a couple of others.  Some of these diseases (all of which are fairly rare) tend to occur only in certain populations, such as Maple Syrup Urine Disease, which occurs in Amish/Mennonite people.  Others may occur for anyone regardless of race/ethnicity/background.

 

If you go to the March of Dimes website and search "Newborn Screening", you can learn much more.

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