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Help interpreting amino acid test results

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by findinglife, Oct 4, 2017.

  1. findinglife

    findinglife

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    hi guys about 2 months ago I did an amino acid test and here are the results.

    The reason I did the test was because me and my brother both suffer from body odor, exhaustion, excessive sweating and various other health problems including abnormal body shape since age 12. I suspect I have some mild amino acid disorder which also affects my brain but am not sure. Could someone help me intepret these results.

    What I suspect is either homocystinuria or a krebs cycle disorder but I can't be sure which krebs cycle disorder and am basically open minded at this point. I could have anything but I know its some kind of amino acid disorder.

    Results are in the PDF thanks for viewing.
     

    Attached Files:

  2. rodgergrummidge

    rodgergrummidge Senior Member

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    @findinglife

    1-methyl-histidine: Naviaux et al. (Proc Natl Acad Sci U S A, 2016) also found elevated 1-methylhistidine and tyrosine in the top 10 metabolites that identified males with CFS.

    Phosphoethanolamine (PE) is a phosphomonoester metabolite of the phospholipid metabolism. PE is a precursor of phospholipid synthesis and a product of phospholipid breakdown. Thus, elevated phosphoethanolamine may indicate disruption of phospholipid metabolism. While Naviaux et al. found disruptions in lipid metabolism in CFS patients, no abnormalities in PE were observed.

    Amino acid signatures found by Fluge et al. (JCI insight 1, e89376 2016) and Naviaux et al which include reduced levels of Lys, Leu, Phe, Tyr, Ile, Trp and Ala in the blood level of female CFS patients (not male). Your profile for most amino acids suggests normal function of the TCA cycle. However, hydroxybutyrate or urine organic acids are more diagnostic for defects in the TCA cycle.

    Ornithine/citruline levels seem normal suggesting that your Urea cycle is functional

    Tryptophan. Niacin (Vit B3) is a precursor to reducing groups nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+). These molecules are involved in more than 500 enzymatic reactions and a so are vital for health. Tryptophan is an important dietary source for Niacin. Elevated tryptophan may suggest that there could be a a block in the reactions that convert tryptophan to NAD+ and NADP+. However, I am unaware whether such a block leading to an increase in tryptophan has ever been described in any disease including those similar to niacin-like deficiencies.

    beta-alanine. A number of studies McGregor et al (eg Biochem. Mol. Med. 57, 73-80 1996) showed that CFS patients had significant increases in b-alanine.

    hopefully you find this info helpful

    Rodger
     
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  3. rodgergrummidge

    rodgergrummidge Senior Member

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    is your body odor fishy, cabbagy, sweet, sour, mousy, rancid, or any other distinctive feature? Could be important as different metabolic conditions lead to different odors........
     
  4. Kati

    Kati Patient in training

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    I think one has to be careful in comparing different tests with other studies, in some studies did their research on plasma or whole blood, and some did theirs on urine. The interpretation would varie greatly in that regard. Moreover, the different companies offering the tests may use different techniques compared to the ones mentioned in research.

    Your test interpretation, at the bottom of the page states it is normal. Then it is normal.
     
  5. findinglife

    findinglife

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    ok sorry just to reply to you guys this was a URINE TEST and the body odor is primarily ammonia but sometimes it varies into onion, fecal or mousy.
     
  6. Sea

    Sea Senior Member

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    What does "not detected" in the reference range column mean? Does it mean there isn't usually any of that substance found in urine or just that they don't have a reference range for it?
     
  7. Valentijn

    Valentijn Senior Member

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    It means there shouldn't be a detectable quantity. So even a "trace" would be an abnormal result.
     
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  8. Sea

    Sea Senior Member

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    That's what I thought, so there are several items there that the result is a considerable quantity found where the ref range is not detected. Not sure how it then gets interpreted as normal
     
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  9. Valentijn

    Valentijn Senior Member

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    The ones listed there seem to be normal things to find in the urine. So the lab is being sloppy about listing ranges.
     
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  10. BeautifulDay

    BeautifulDay Senior Member

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    @findinglife What is your abnormal body shape? Please describe as best as possible in most detail. Does your brother have this same shape?

    Have you been checked for the genetic causes of odor, such as Trimethylaminuria? That one is known as causing fish odor, but some studies describe it more as a smell of rotting garbage.
     
    Last edited: Oct 6, 2017
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  11. BeautifulDay

    BeautifulDay Senior Member

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    I ask about the abnormal body shape because there are several syndromes that cause a combination of abnormal body shape and pungent odor.

    For example Noonan Syndrome. "In 5 of the patients an unusually pungent odor of urine and sweat was noted by parents. ".
    https://www.omim.org/entry/163950
    Others describe "foul smelling stools that contain an excessive amount of fat."

    So details are important
     

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