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Volume 5 Issue 4

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Page 24 | Abby's Magazine - www.AbbysMag.com jumping to scary conclusions or jumping onto the high dose supplement bandwagon. However, it's very important to remember that the presence of an MTHFR SNP does not mean you are automa cally at risk for any of the symptoms or condi ons I've men oned, and does not automa cally mean you need supplementa on to offset the poten al risks. That's all they are: poten al risks. The presence of the gene alone doesn't mean that the enzyme won't func on well. It can't tell whether you personally are methyla ng well or poorly, for example, and whether you personally need addi onal support. And in fact, excess supplementa on has it's own risks! In my prac ce, I check for the MTHFR A1298C and C677T SNPs themselves, along with tes ng for elevated homocysteine, and B12 deficiency in the following people: • All women of childbearing age and specifically, all women trying to conceive, and women who have had a prior child with MTHFR-related birth defects or behavioral challenges or au sm. • Any pa ents with symptoms or a personal or family medical history that could be a ributed to an MTHFR SNP, i.e., depression, heart disease, stroke, children born with neural tube defects, and any of the symptoms/condi ons I've men oned previously. • Children with behavioral challenges or on the au s c spectrum (I check for SNPs, B12 levels, and elevated homocysteine). So, you've go en tested and discovered that you have an MTHFR SNP and now you wonder what you should do. First – don't panic! For one, just having the SNP doesn't portend gloom or doom, and if you do have the SNP there are things you can do to protect your health. Essen ally, if you have the MTHFR SNP, you can't get your folate into its methylated form, because your methyla on pathway isn't working, and then you can't recycle your homocysteine back into methionine. It's a bit like you need to get from Train Sta on A to Train Sta on C, but Sta on B is out of order. You need to hop a cab to get around the obstacle. Methylfolate is an already methylated form that allows you to bridge the gap without the func oning enzyme. From there, the rest usually takes care of itself. Read below for your specific needs. I Have the SNP But Normal Homocysteine and B12 Levels, and No History of a Problem If you have the A1298C SNP and no other issues or lab abnormali es, while technically current studies show no need for supplementa on, I s ll recommend 400 mcg of methylfolate daily as it is protec ve, there's no harm at all, and we're s ll learning about the poten al for these SNPs to be associated with disease. If you have the C677T SNP, whether you are heterozygous or homozygous, and you have no other issues or lab abnormali es, I recommend a lifelong maintenance dose of 400 to 800 mcg of methylfolate daily depending on your family risk factors. I Have the SNP and Am Trying (or Planning) To Conceive In women of childbearing age, in order for folate (the naturally occurring form from plants), folic acid (the synthe c form), and methylfolate (the methylated form you need if you have the SNP) to have a protec ve effect against neural tube defects, it has to be taken during the first month of pregnancy – neural tube closure happens by 28 days of pregnancy – o en before a woman even realizes she's pregnant. Therefore, all women of childbearing age should be taking a supplement with 400-800 mcg of methylfolate specifically if she has the SNP or doesn't know, because the other forms will not only not provide her the form her body can u lize, but may actually be counterproduc ve. Then throughout pregnancy, the same dose should be maintained, and I go up to 1mg/day in women with a history of fer lity challenges, miscarriage, or any of the pregnancy complica ons I men oned above, or a child with any birth defects, behavioral challenges, or au sm. Discovered that you have MTHFR & wonder what you should do? First – don't panic! There are solu ons! Should I Test and Treat My Kids? As men oned above, I test children on the spectrum and with significant behavioral issues for MTHFR, homocysteine, and B12. Otherwise, I don't rou nely test kids under 2, or older kids. For kids that do test posi ve, and have medical

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