PKU test inconclusive

ejwiegert

New member
As if Dave and I don't have enough to worry about with Abby, her pediatrician's office called us this afternoon and said that her PKU test came back inconclusive and that we'd need to have her retested on Monday.

Are there any cases out there that have CF AND PKU? Does anyone have experience getting a false postive or inconclusive result and have to have their child retested?

Any thoughts, ideas, reassurances would be greatly appreciated. I'm feeling rather neurotic these days about Abby's general health.

Em
 

ejwiegert

New member
From the PKU website: <a target=_blank class=ftalternatingbarlinklarge href="http://www.pku.com/
">http://www.pku.com/
</a>
PKU: Phenylketonuria. An inherited metabolic defect in protein metabolism. In PKU, the liver is unable to convert phenylalanine to tyrosine, resulting in a buildup of phenylalanine in the blood, which eventually passes into the brain, causing mental retardation and other neurological problems.

It is a genetically inherited disorder, very rare, but inherited like CF.
 

thelizardqueen

New member
Phenylketonuria (PKU) Test. A PKU test is a blood test done to determine whether a newborn has the enzyme to metabolize phenylalanine. Phenylalanine is an amino acid that is needed for normal growth and development. It is found in most foods containing protein, especially milk, cheese, and meats. PKU is an inherited disease caused by the absence of the enzyme that converts excess phenylalanine into another amino acid called tyrosine.

Would I be correct on this?
 

chipper28

New member
I only knew about the same amount that was posted above, but I did
find one thing in a quick search which seemed promising:<br>
<br>
From wikipedia:<br>
"There are a number of causes of <a href=
"http://en.wikipedia.org/wiki/Hyperphenylalaninemia" title=
"Hyperphenylalaninemia">hyperphenylalaninemia</a>, and less than
10% of the positive results obtained by the screening program are
confirmed as due to phenylketonuria (PKU). There are other
metabolic diseases that can produce hyperphenylalaninemia, but <a
href="http://en.wikipedia.org/wiki/Type_I_and_type_II_errors"
title="Type I and type II errors">false positive</a> results can
also occur due to unexplained mild, transient elevations, <a href=
"http://en.wikipedia.org/wiki/Prematurity" title=
"Prematurity">prematurity</a>, <a href=
"http://en.wikipedia.org/wiki/Parenteral_nutrition" title=
"Parenteral nutrition">parenteral nutrition</a>, or contamination
of the filter paper specimen."<br>
<br>
I found the same thing at webmd with most positives being
false-positives.  From a study released this summer based out
of Children's Hospital Boston, they found that "For every true
disorder diagnosed, research suggests there are 12 or more false
positives".<br>
<br>
Ways to get a false positive:<br>
A false positive elevated phe concentration (hyperphenylalaninemia)
may result from:

<ul>
<li>a blood spot that is too thick (when using Guthrie test)</li>

<li>a sample that is improperly prepared</li>

<li>combinations of the following: liver immaturity, protein
overload (in newborns who are fed cow's milk), and heterozygosity
for phenylalanine hydroxylase deficiency.</li>
</ul>

<br>
<br>
In addition to the completely false positives, there are also cases
where the elevated phenylalanine is a product of something other
than PKU.
                                          <br>

<br>
Since the probability of a positive pku gutthrie heel stick being a
true positive is so low, I'm hoping that Abby's
"inconclusive" has even less chance... I did read that an
inconclusive result can just be a product of the child not
digesting and eating well at the time of the test.
 REcommended that the infant be at least 72 hours before they
do the test.<br>
<br>
One last thought is that I found an article which provides some
good general explanations and analysis of why false positives
occur: http://www.medscape.com/viewarticle/504722_2 .<br>
<br>
Hope this might help somehow,<br>
<br>
Elizabeth<br>
 

ejwiegert

New member
Thank you Elizabeth. I just became so exhausted last night trying to research the test and what PKU was/is that I FELL ASLEEP AT THE COMPUTER!!! :)

Liz, Great minds, great minds... :)

That is VERY reassuring to hear. If Abby weren't eating like a champ I think I would be totally nuts right now, but from what I read PKU babies refuse to eat and are very fair skinned and have blonde hair, even as newborns...Abby has olive skin and a head full of dark hair. I know you can't completely rely on that sort of symptom check, but I have to do something to keep me from totally freaking out here. Also to the chances of her having TWO genetic disorders are astronomical, but not unheard of. Where there is a 1/3000 chance of her having CF (which she does) there is only a 1 in 10,000-15,000 chance that she could have PKU.

Probably TMI for everyone, but...I'm so glad I got "fixed" after Abby's arrival. I'm not sure I could go through all of this again. Just when I thikn things are calming down for little Abby, I get some news that totally unnerves me. I think that is why I woke up with a migraine this morning. I haven't had one in about 3 years!!! I told Dave if he wants a boy really bad, we can adopt in 4-5 years. I'm thinking Golden Retreiver. :)

Em
 

ejwiegert

New member
Ok, good news...sort of.

My mom just emailed and said that a co-worker's daughter had to have her PKU test done 4 times because of procedure error collecting the sample...

AND

...in Georgia the PKU test for 6-8 metabolic disorders, so...we may not even be looking at PKU as a culprit and it might just be that the card was done wrong.

Phew!!! I'm not going to turn into a nut job just yet!

Em
 

ejwiegert

New member
<a target=_blank class=ftalternatingbarlinklarge href="http://www.mcg.edu/pediatrics/ccnotebook/chapter1/metabolicScreen.htm
">http://www.mcg.edu/pediatrics/...1/metabolicScreen.htm
</a>
For those that are curious...the above link is the list of the 8 metabolic disorders that the PKU test looks for in Georgia.

Em
 

JRPandTJP

New member
You have alot on your plate right now...hang in there. Hopefully soon all these screening and such will be out of the way, you'll know if she needs enzymes or not, and you be able to be just a new, breastfeeding momma of a perfect little girl.

Hang in there... Jody
 

3timesthefun

New member
My daughter's first PKU test came back positive, was retested and came out negative. I was also stressed thinking I can't handle both. Luckily, we didn't have to. Hopefully yours will come out the same. Good Luck
 

ejwiegert

New member
It is amazing how tested I feel now, even though it is Abby going through all of the actual testing. The lab had to send Abby's BM sample for the enzyme test to a THIRD lab, so it will be Tuesday or so before we hear about that. I keep telling myself it could all be worse. I look at this precious child sleeping and think to myself that I am willing to do whatever it takes to make sure she is healthy for as long as possible. Lucy's been sick today (I think it is allergy) but how do you keep a 2 year old who only wants to hug and smooch and love on her baby sister away without completely hurting her? Lucy just started crying when I told her no. I about died I was so heartbroken!!!

Em
 
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