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Discussion Starter · #1 ·
<p>Was hoping to get some advice on whether I should allow a fourth repeat of a PKU.  DD had her first PKU at 2 weeks, I waited until then so my milk would be well established and the test would be valid. Got a call from the ped that it tested positive for maple syrup urine disease.  DD has no symptoms of that, seems to be thriving to me, and my understanding is that the PKU is set up to be sensitive so false positives can be common. </p>
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<p>Ped wanted to retest DD, so I took her in at 3 weeks.  Apparently the sample was unsatisfactory for the test.  Ped asked me to bring DD in for a repeat.  I took DD in around 5 weeks when I was already going in for DS and the nurse assured me that she would get enough of a sample for a valid test and ped assured me after examining DD that she was sure she didn't have maple syrup urine disease.</p>
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<p>Peds office just called and said the ped wasn't happy with the results and wants to repeat the test at DDs next well baby visit in about a month.  Would you repeat this test again??  I am inclined not to.  I mean, if the ped is comfortable waiting a month, it doesn't seem serious.  And wouldn't we need to go to a genetic counselor for more precise testing if this was a concern instead of repeating the same seemingly faulty PKU again?   </p>
<p>Thoughts?</p>
 

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<p>I would take her to a different office to be tested immediately. If she is positive, that's something that would need to be dealt with ASAP, and if it's negative, you don't need the hassle of waiting a month to get them to repeat the test yet again- and what if they say it's inconclusive or faulty a fourth time?!</p>
 

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<p>I would do something similar to what Lynsage said...get another opinion, get a referral to the genetic counselor now, do the test now.  Yes, I would do it, if she has it or something else every day that goes by is a wasted one.  She needs the appropriate treatment. </p>
 

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<p> </p>
<div class="quote-container"><span>Quote:</span>
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<div>Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.</div>
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<p><a href="http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease" target="_blank">http://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease</a></p>
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<div class="quote-container"><span>Quote:</span>
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<div>Rarely, milder variants of MSUD can present as anorexia, poor growth, irritability, or developmental delays later in infancy or childhood [<a href="http://www.ncbi.nlm.nih.gov/books/NBK1319/#msud.REF.chuang.2001.1" target="_blank">Chuang & Shih 2001</a>]. Such children can present with acute leucinemia, ketonuria, and encephalopathy if stressed by fasting, dehydration, or infectious illness.</div>
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<p><a href="http://www.ncbi.nlm.nih.gov/books/NBK1319/" target="_blank">http://www.ncbi.nlm.nih.gov/books/NBK1319/</a></p>
 

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Discussion Starter · #5 ·
<p>Thank you for the replies.  I'll think I'll call the ped tomorrow to find out what the next step in testing is beyond the PKU and get a referrel.  But DD is off the charts in growth (big), derfinately not dehydrated, nurses great, and is very relaxed and calm, and of course her urine doesn't smell like maple syrup.  I guess it's just hard to believe that my kid could have this rare disease.</p>
 

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<p>My feeling (and it's just a feeling, I admit I have zero reasoning behind it besides your description of her lack of symptoms) is that she doesn't, and they're screwing up the test somehow. Which is why I'd go elsewhere for a conclusive result to put the issue to rest ASAP.</p>
 
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