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Compound MTHFR heterozygous with perfectly normal B12 and homocysteine

Discussion in 'Genetic Testing and SNPs' started by lyonsden10, Sep 17, 2014.

  1. lyonsden10

    lyonsden10

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    I just got a huge bundle of blood test results and my glutathione is low (222 225-386), but I did the methylmalonic acid test for b12 and that was normal (95 0-378) as well as my homocysteine (8.6 0-15).

    So what would this mean for treatment? Do I really need to supplement B12 then?

    Thanks,
    Susan
     
  2. Critterina

    Critterina Senior Member

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    @lyonsden10 , Hi Susan,

    Serum B12 being normal doesn't necessarily mean that you have enough active B12. But since your homocysteine is low, that could (or not) mean that you don't need to supplement it.

    It's possible unless you had a very robust test done (better than the 23andMe) that both your MTHFR mutations are on the same strand of DNA. That would leave you with 50% functionality from the good strand, approximately, and a little from the bad strand.

    I'm going to go WAY out on a limb and guess that you have MTRR A66G -/-, CBS (various) +/+, and that you have CFS (and maybe some mood issues). And that you eat lots of veggies and berries. Did they do a serum amino acid test? Was methionine low also?

    It's a complicated picture - genetics, labs, symptoms (and environment and lifestyle). I think that very few times can you look at genetics alone and tell whether you need to supplement (although I think people with those SNPs may tend to gather on this site.)

    Critterina
     
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  3. lyonsden10

    lyonsden10

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    Thanks. I didn't do a serum amino acid test. Which do you suggest?

    I am compound heterozygous for mthfr. My only ++ was the MTRR A644A.

    Thank you for saving me a fortune that I could not afford!

    Susan
     
  4. Critterina

    Critterina Senior Member

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    Susan,

    What test identified that the two MTHFR mutations were on different strands? They have to be on different strands of DNA for you to be "compound" hetero.

    My healthcare practitioner ordered "9389 amino acids, plasma, LC/MS" from one of the Quest Diagnostic laboratories (Sonora Quest, in my case.) It has many of the same tests as the Metametrix interpretation guide.

    The test is also part of the NutrEval, but for some reason, my vials didn't get sent when I did that test. From what I see on the printout, it doesn't look like they print the result and range. Since my healthcare practitioner looks at trends (what I'm in the top 10% or bottom 10% of the normal range, and are there consistencies in what those mean?) not just "in" or "out" of range, I like to know numbers, not just red, yellow, green.
     
  5. lyonsden10

    lyonsden10

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    Oh, sorry, I'm still learning the terminology. MTHFR C677T and MTHFR A1298C are both +-. I had Labquest do a blood test and also 23andme. Results were the same.

    I just uploaded my blood tests if you could take a look and tell me what you think.

    Thanks, Critterina.

    Susan
     

    Attached Files:

    Last edited: Sep 18, 2014
  6. Critterina

    Critterina Senior Member

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    Susan,

    I really have no medical training for looking at your lab tests. The fact that your homocysteine isn't elevated probably means that the two MTHFR mutations are probably on different strands, which is a great relief.

    Do you "need" to supplement B12? Well, you can do what you want. But you do have two of the MTRR mutations (the lesser one is +/+, the more important one is +/-). It probably wouldn't hurt. You're sensitive to sulfurs and have low glutathione, and have CFS/Fibro/Migraines (all associated with biopterin cycle). So here are some connections to think about:
    • If you keep the homocysteine in the methyl cycle (with methylfolate and B12), it doesn't go into the sulfur cycle, so that might help the sulfur issues, but probably not solve them. Even though you don't have CBS C677T, it's still possibly something that might help some.
    • Methylfolate supplements will encourage the biopterin cycle to produce BH4, the active form of biopterin, and low levels of it are associated with CFS/Fibro/Migraines. I'm not saying these will go away if you use methylfolate, but you might get some relief.
    • Glutathione production depends on BH4 and active B6, so in a round-about way, the methylfolate might help raise glutathione. But you might also consider supplementing B6 (pyridoxine hydrochloride) or the active form of B6, called P5P (pyridoxyl-5-phosphate) to boost glutathione production.
    I would suggest, though, since you don't have glaring SNPs associated with most of this, that very small quantities may be enough. You probably want the B12 to be sublingual (and avoid cyanocobalamin). The others, methylfolate and B6, are swallowed. It could be that the amounts in an active B multi (complex) would be enough for you. That doesn't let you vary things independently, but it's up to you how much experimenting you want to do.

    I'm starting to be a believer in addressing leaky gut, maybe first (I didn't, but I had to learn my way didn't work first). I'm just starting that myself, in a more organized fashion. With leaky gut and intolerance for fermented foods, I have to suspect histamine intolerance, which I think should change the way you go about fixing leaky gut. Do you do OK with tomatoes and spinach?

    Crit
     
  7. lyonsden10

    lyonsden10

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    Thanks so much, Crit. No expectation that you are more than an increasingly educated patient. But it was very helpful to read your thoughts.

    No,I cannot eat tomato or spinach.

    Really appreciate your support.

    Leaving tomorrow for a week-long cruise. Will be good to take a brief break.

    Susan
     
  8. Critterina

    Critterina Senior Member

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    Tomato and spinach were my key to looking at histamine intolerance, and that has made all the difference. I take it you have a good handle on what you can and can't eat. Have a Bon Voyage!
     
  9. lyonsden10

    lyonsden10

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    thanks

    Yes, I've been reading about this since your earlier post and I believe I have histamine intolerance too. My main symptom is 24/7 dizziness and that is a big symptom! Also read that even probiotics are no good if you have this and certain meds I take also can have an effect!

    So complex to figure out.

    Susan
     

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