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  • NKH - Elevated glycerin level in urine

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    Old 12-10-2020, 03:07 AM   #1
    potentialdonkey
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    NKH - Elevated glycerin level in urine

    Does anybody have any experience with NKH diagnostics?

    My 2yo was diagnosed Failure To Thrive ~4 months old. Has had ongoing issues with weight gain and muscle tone.

    He has just had metabolic screening of a urine sample and glycine in his urine was in the 2000s, however, that was followed up with a plasma screen (blood), which came back as mildly elevated only (433 - anything less than/equal to 400 is considered 'normal' range)

    I'm wondering if he can still be diagnosed/confirmed NKH if plasma glycine level was only marginally elevated on the plasma sample/test, compared to the original urine metabolic screen?

    Is it contraindicated in NKH for high levels of glycine to not be metabolised by the body, excreted in urine (resulting in lower/maintained glycine levels in blood sample) rather than a persistently high level in all test/samples?

    Note this is the first time this has been tested for. We have also undergone genetic testing (pending results), however, there is another child in our extended family not much older than our son who has been diagnosed with some kind of glucose metabolic disorder just recently.

    TL,DR:
    Can NKH be diagnosed if highly elevated levels of glycine are detected in a urine sample only or does it have to be in blood plasma/CSF for diagnosis as confirmed NKH?

    What else could result in elevated glycerin levels in blood/urine?

     
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