NEW STUDY! Parasym Plus™ for Multiple Sclerosis › Forums › PrettyIll.com Discussion › The Latest Research › 4 yr old with one copy of MTHFR
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April 23, 2012 at 4:59 pm #165
My 4 yr old just under went genetic testing. They determined that she does not have vascular type EDS, but tested poss. for one copy of MTHFR mutation of C677T. I am trying desperately to figure out what this means exactly. The letter I received said that ” it is of no clinical significance” .. which I don’t buy. She smells like acetone when she eat red meat or chicken .. and I just have this gut feeling there is something more to her issues than meets the eye. something on a metabolic or genetic level
My daughter has IBS symptoms which are controlled with a strict diet, probiotic supplementation and biotin supplementation. She also has some sensory processing issues and I believe she is an abstract learner ( dyslexia). She has hypermobile type of EDS and also pectus excavatum. Please, if anyone can help guide me to more info on this mutation I would be very very grateful!April 24, 2012 at 12:24 am #2043
Do you supplement her at all? 5-MTHF (methyltetrahydrofolate) is the type of folate (activated folic acid) that should be supplemented for MTHFR per my integrative naturopath doctor. Both my daughter and I are suspected to have MTHFR due to our midline defects, so we both supplement. I honestly don’t know a whole lot about it. What I do know is that regular folic acid is not absorbed properly, so the special folate is absorbed so you can help to avoid problems. I believe methyl B12 should be supplemented as well. We were supposed to get tested, but got sidetracked by our EDS and my POTS diagnosis. Our ND did tell me that the supplement is all that she would add even if we were positive, and we are already on it. I do remember her telling me that people with MTHFR defect sometimes have a hard time with the methylation (detox) pathway if burdened with heavy metals, etc. We already had previous lab work that showed we both were having methylation problems.April 24, 2012 at 12:26 am #2044
I don’t tell you this to scare you, just to share info. It is a hot topic in autism right now, as it is being linked to autism in some, I believe due to the inability to properly detox. It’s mentioned in the bottom of this abstract. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2610366/ “Differences in allele frequency and/or significant gene-gene interactions were found for relevant genes encoding the reduced folate carrier (RFC 80G>A), transcobalamin II (TCN2 776G>C), catechol-O-methyltransferase (COMT 472G>A), methylenetetrahydrofolate reductase (MTHFR 677C>T and 1298A>C), and GST M1. We propose that an increased vulnerability to oxidative stress (endogenous or environmental) may contribute to the development and clinical manifestations of autism.” Another pubmed article http://www.ncbi.nlm.nih.gov/pubmed/19440165 “Results: MTHFR 677T-allele frequency was found to be higher in autistic children compared with nonautistic children (16.3 vs. 6.5%) with 2.79-fold increased risk for autism [95% confidence interval (CI): 1.58-4.93] Conclusion: MTHFR C677T is a risk factor, whereas MTRR A66G and SHMT C1420T polymorphisms reduce risk for autism. MTHFR A1298C acts additively in increasing the risk for autism.” Here is another discussion about it. http://heal-thyself.ning.com/forum/topics/mthfr-c677t-folate I know I have more articles and info saved on my other computer if you are interested I could get you some links. You will have to copy and paste links because they don’t work from this forum.April 24, 2012 at 12:36 am #2045
Here is the 5-MTHF 1mg that we both take. (Teeny capsules.) I buy it from my ND’s office because it is across the street from my home. 🙂 http://www.amazon.com/Thorne-Research-5-MTHF-5-Methyltetrahydrofolate-1mg/dp/B001PLESO2 P.S. Looks like the links do work above.
I am curious to see if anyone else chimes in on this discussion, as I didn’t link the MTHFR to EDS yet. I am still a newbie here. 🙂April 25, 2012 at 10:10 pm #2049
Thank you SO much! this is making tons of sense right now.. I knew about it messing up the methylation cycle but didnt realize it interfered with detox!April 26, 2012 at 6:51 pm #2054ourfullhouseParticipant
I believe one copy of only one of the defective genes is inconclusive, because we just don’t have a way to know if that gene is switched on or off/ expressed in an individual or not. That is why having a compound result (two of one bad gene or one each of two bad genes) is considered having a stronger association with being unable to metabolize B6, B12 and Folic Acid. My naturopath would do the same as yours, MattiesMom, try the activated folate and if you feel better you know you need it without doing the test. Also, none of my children are autistic.
I have had the genetic testing and came back as “compound heterozygous” with one copy each of C677T and A1298C. Per the lab report “This genotype is predicted to be associated with a poor metabolizer phenotype characterized by increased plasma homocysteine levels. This individual is at increased risk for arteriosclerotic coronary disease and venous thrombosis as well as for toxicity from medications affecting folate metabolism.”
A person with the MTHFR gene defect need to take activated forms of the above vitamins. I was taking the Thorne 5MTHF and Thorne Methylguard (for the B6 & 12), but I need such a high level of folic acid that the cost was getting too much to buy the Thorne 5MTHF. Also, my husband has the gene defect, and the cost goes through the roof when you are both taking 30 mg of activated folate a day. So, we are now getting it RX for it (brand name is Deplin, but there is also a generic L-Methylfolate Calcium that is MUCH cheaper!) and saving a lot of money! 90 day mail order through our insurance, for 30 mg a day, is $30. So much less than the Thorne! We still are taking Thorne Methylguard, but my naturopath is getting us set up to do activated B12 injections at home soon.
Haven’t had our kids tested yet, and we need to, especially the girls, at least before they get married and have babies, as low folate is linked to neural tube defects, pregnancy complications/miscarriages and delivery complications (all of which I have had, except the neural tube, though on most of my 8 miscarriages we don’t know if something was wrong with the baby or not).
Hope that helps to hear from someone who has had the testing done.April 30, 2012 at 6:54 am #2086SophiegirlParticipant
I am a mother of a son who was told at age 5 that he’d had dyslexia only to find out at age 21 that he had the MTHFR Gene A12098/T677C. In 2008 I found out that I have the same and so does my other son. I just recently found out that my first cousin has the double T677C. Her mother which is is blood relative has the same MTHFR Gene that I have. Her father has the single T677c.
What I am about to tell you may be frightening but had I known this my son would not have lived the horrors he did as a child. If you child has been vaccinated she probably has mercury poisioning!
Please email me at email@example.com I have alot of information to provide you as well as doctors who can help her and you.June 4, 2012 at 10:22 pm #2341
Sophiegirl I would love whatever info you have.. and no we do NOT vaccinate! Auto-immune disease and autism are very prevalent in my family and my husbands siblings had severe reactions to them as well. I *do* think heavy metal toxicity may be an issue though despite the fact my kiddos are vax free.
DD1 just presented with a new symptoms of eczema a couple months ago. It is awful and on her face. And linked to corn exposure and her IBS symptoms. She also has Pectus Excavatum, a heart murmur ( developed in the past year), She was born with an umbilical hernia as well as a lip tie and posterior tongue tie… So midline issue are there for sure. She is also an abstract thinker and did have severe sensory issues ( I suspected autism) but they resolved after food elimination and gut healing. I really think her ability to detox *is* screwed up somehow. but how to help her?June 5, 2012 at 3:20 pm #2344SophiegirlParticipant
You can call me at 314-651-2700. To much information for me to type!June 30, 2012 at 1:28 am #2495
There is a fascinating article (written by a mother) about MTHFR in HEDS… if you look up http://www.mthfrheds.com.July 29, 2012 at 9:17 pm #2697
Sophie I go plan to call you! I am just awful about checking forums.
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