PKU information?

[KristinDoula]

Does anyone have a good article/handout on the PKU screening? My clients indicated an interesting in more info on this, and I'd like to find an easy to read, to the point article with info on WHAT it is, why it's done, and most importantly optimal timing of the test when it's done!

Thanks!

[amymaew]

I found this handout - maybe you could email her and ask if you could use it?

http://www.mybirthbydesign.com/Newborn%20procedures.pdf

[UtahDoula]

Well, since the "PKU test" is actually a cluster of tests for different metabolic diseases, and since which diseases they test for varies widely from state to state, make sure what you're using is accurate for your state. It's been a while since I worked for them, but the March of Dimes had a nice chart showing which states tested for which conditions. My state health department was also very helpful when my state recently switched from testing for 9 conditions to testing for 30. I called them up and asked about the change, and the woman spent a good half hour on the phone with me answering my questions. They also sent me a brochure talking about the change and a listing of which diseases they are testing for, broken down by category. (i.e. conditions where proteins are not metabolized correctly, conditions where fats are not broken down correctly, etc.)

[UtahDoula]

I found this which may be helpful to find out what they test for in your state:
http://genes-r-us.uthscsa.edu/resour...r/statemap.htm
http://genes-r-us.uthscsa.edu/nbsdisorders.pdf
(Please note there are three pages on the last link, each with a chart that shows different diseases & conditions)
I read the handout linked above, and she makes the point that I hear commonly that the testing at discharge is useless for PKU. Which this MAY be true (I don't know either way) I do know that there are some others that my state tests for that can be detected at tthis point, ones that could kill or permanently damage a newborn by the 2 weeks repeat screening. I caution anyone against advising clients to skip the test at discharge because it is "not effective" the way the handout linked above does. Her handout also implies that PKU is the only test done, and her site shows she lives in New Jersey, which does test for more than just PKU.