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Thread: Organic Acid Levels??

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    #1

    Organic Acid Levels??

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    We got a call last week that Little K's doc wanted to see me to go over her PKU and hip screening results.

    As far as her hip goes (severe hip displasia is very common in my family)the results of the xray were that her hips not normal enough to call them normal and not abnormal enough to warrant braces or anything. So they redid the xrays today to see what, if anything has changed in the past 3 weeks.

    They dis two PKUs on Little K so far. One right after birth and one at two weeks. The first one was completely normal. At the second one they weren't. Her organic accid level was at 0.03 and it is supposed to below that. I asked her doc and all he said is that is has to do with her metabolism and that he isn't worried about it all and that he is certain that it will come back normal this time (they redid that as well today). I don't want to google it and possibly scare myself with all the possible answers I could find. lol Anyone have any first hand experience with it?
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    #2
    Anyone?
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    Sorry. They haven't done any of those tests on Peanut. I hope someone can help though.

    I would like to be with my for a while but thats what made me so tired in the first place!
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    I don't have any experience, and I know you don't want to google....but I am cutting and pasting a couple things that seem very pertent to read.

    Many organic acid disorders present in the neonatal period. Typically, an affected newborn appears normal for the first days of life, but then may develop vomiting, poor feeding, failure to thrive, hypoglycemia, hyperammonemia, seizures, hypotonia and lethargy, progressing to coma. Common findings include ketosis, metabolic acidosis and, in some cases, an unusual odor.

    False positive and false negative results are possible with this screening. Early specimen collection (after first 24 hours of age) may enhance the detection of these disorders, as acylcarnitine levels may decrease with infant age. Infants with presumptive positive screening tests require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist.

    Key Points for Parents
    Avoid overly alarming the child’s parents if the diagnosis has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make certain that the parents understand the importance of following the pediatrician’s and/or specialist’s recommendations for additional testing and referrals
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    Quote Originally Posted by amazinggrace View Post
    I don't have any experience, and I know you don't want to google....but I am cutting and pasting a couple things that seem very pertent to read.

    Many organic acid disorders present in the neonatal period. Typically, an affected newborn appears normal for the first days of life, but then may develop vomiting, poor feeding, failure to thrive, hypoglycemia, hyperammonemia, seizures, hypotonia and lethargy, progressing to coma. Common findings include ketosis, metabolic acidosis and, in some cases, an unusual odor.

    False positive and false negative results are possible with this screening. Early specimen collection (after first 24 hours of age) may enhance the detection of these disorders, as acylcarnitine levels may decrease with infant age. Infants with presumptive positive screening tests require prompt follow-up and, when notified of these results, the clinician should immediately check on the clinical status of the baby and refer the infant to a metabolic disease specialist.

    Key Points for Parents
    Avoid overly alarming the childís parents if the diagnosis has not yet been confirmed. If the child needs additional testing or diagnostic evaluation, make certain that the parents understand the importance of following the pediatricianís and/or specialistís recommendations for additional testing and referrals
    Thank you
    An unconditional right to say what one pleases about public affairs is what I consider to be the minimum guarantee of the First Amendment.
  7. Del
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    PKU is a pretty common issue and really treatable, that's why they screen newborns for it.

    Basically it's talking about phenyl ketones (types of organic acids), and I think PKU stands for phenylketone uria (but I might have the U slightly off).

    If Little K had it, it would mean she wasn't breaking down her amino acids properly, so they're ending up as ketones/other ketone like byproducts (specific, phenyl amino acids: phenylalanine is the key one, tyrosine as well), and so she's ending up with excess ketones in her urine. This could cause problems down the line with development, but ONLY if not caught and treated.

    It's pretty easy to treat - mainly diet modificiations to eliminate excess phenylalanine.


    I may not be totally up to date on the specs and parental aspects, but we learned all about PKU and the pathways in biochemistry last quarter, so this is what I remember of it.

    It all has to do with glucose metabolism and breakdown and the urea cycle, and recycling of DNA amino acids as DNA is snthesized and broke down. Normal bodily functions that sometimes get sidetracked on side reactions if the amounts of things are off.



    I'm pulling this off the top of my head 'cos I didn't want you freaking out. From what I remember, it wasn't a "freak out" kinda deal. Just a diet modification for life kinda deal, which isn't so bad really. If I'm wrong about any details, it's just 'cos my memory is faulty - I'm sure googling will be clearer. My bad if I said anything wrong.
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    #8
    i have no experience just ers
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    #9
    Quote Originally Posted by Del View Post
    PKU is a pretty common issue and really treatable, that's why they screen newborns for it.

    Basically it's talking about phenyl ketones (types of organic acids), and I think PKU stands for phenylketone uria (but I might have the U slightly off).

    If Little K had it, it would mean she wasn't breaking down her amino acids properly, so they're ending up as ketones/other ketone like byproducts (specific, phenyl amino acids: phenylalanine is the key one, tyrosine as well), and so she's ending up with excess ketones in her urine. This could cause problems down the line with development, but ONLY if not caught and treated.

    It's pretty easy to treat - mainly diet modificiations to eliminate excess phenylalanine.


    I may not be totally up to date on the specs and parental aspects, but we learned all about PKU and the pathways in biochemistry last quarter, so this is what I remember of it.

    It all has to do with glucose metabolism and breakdown and the urea cycle, and recycling of DNA amino acids as DNA is snthesized and broke down. Normal bodily functions that sometimes get sidetracked on side reactions if the amounts of things are off.



    I'm pulling this off the top of my head 'cos I didn't want you freaking out. From what I remember, it wasn't a "freak out" kinda deal. Just a diet modification for life kinda deal, which isn't so bad really. If I'm wrong about any details, it's just 'cos my memory is faulty - I'm sure googling will be clearer. My bad if I said anything wrong.
    Thank you.

    Quote Originally Posted by harrisonsdream View Post
    i have no experience just ers
    Thank you.
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