Question for those familiar with MTHFR mutation

[Dedee]

I just got back labs that show my daughter is positive for MTHFR C677T Heterozygous mutation. From what I have read, this isn't the worst sort of mutation. My confusion is that most of the literature says that this type is usually related to high Homocysteine levels but my daughter's levels were normal when we tested them back in December (it was 5.7). I have had her on NAC for quite a while and just started the MTHFR-5 from Thorne. I'm not sure what this means in relation to her PANS if her homocystine levels are not elevated. Can someone educate me please?

 

Dedee

[dcmom]

Dedee-

 

I talked to dr T about this. One of my dd's has one hetero MTFHR mutation. He did not believe it was relative to pandas, felt typically it was not a concern, we are testing homocysteine levels and if there is an issue then we will supplement.

 

If you look into this, I believe something like 30% of the general population have it.

 

Since I have two pandas kids- who so far have had almost an exact same course as each other- when one has something like this, and the other not- it kinda confirms that it is not relative to pandas.

 

It is likely something to monitor....

[PowPow]

I am interested in this. My severely affected daughter is normal MTHFR, however had high homo cysteine recently. The other affected children have not been checked.

I find out interesting watching this unfold. Thanks for posting this, dee!

[LNN]

DeeDee, what I've read is that the C677T is the more serious mutation for two reasons - first, this one directly effects homocystine levels, thus effecting risk of heart disease, stroke, macular degeneration... Second, it's the mutation effecting the primary methylation pathway. The A1298 mutation lies on the secondary pathway and generally effects GI issues (not that that's not important too).

 

It's great that homocystine levels are normal! So that's a good thing. But think of the methylfolate as being at a fork in the road. One fork creates homocystine, which then goes further down one path. The other fork recycles methylfolate and methylcobalmin (B12) back into the methylation circle where it gets turned back into energy (ATP) and SAMe (some of which becomes seratonin). So not "metabolizing" sufficient methylfolate can lead not only to elevated homocystine but also lowered seratonin.

 

How much supplementing you need is highly individual. It's really difficult to test for what's going on and so the best measurement ends up being observing what happens. MammaKath has supplemented for her son and seen great results. I've given my DD with the C677T mutation methylfolate and seen nothing dramatic. However, she often complains of fatigue, so I may supplement with Thorne's combo of methylfolate and methylcobalmin when it's time to reorder, just to see if she needs both. With my family history of heart disease, strokes and macular degeneration, it's a prudent thing for my daughter and for myself, even if I don't see OMG results.

 

I agree with DCmom in that an MTHFR mutation is unique to Pandas or autism. But I personally feel that for kids who already have issues with seratonin, an MTHFR mutation is one more thing working against them and supplementing with methylfolate and/or methylcobalmin may be helpful. But again, I don't think it's a one size fits all answer. You just have to do a $17 experiment of one.