MTHFR is in my Clinic: Twenty Patients and Twenty Questions

Hi Dr. Ben,

I am a family practice physician in xxx, Arkansas.  I am very alternative, outside the box.  I specialize in bioidentical hormone supplementation, weight loss and wellness.

I stumbled on to  MTHFR on accident about 3 years ago when a patient told me they had it and then I stumbled upon it about a year ago again.  I thought I was an amazing diagnostician and had found a zebra not only once but TWICE!!! Then as I checked more people I discovered it isn’t rare at all.  It is in almost everyone I suspect now that I know what to look for!!!!  Please teach me all you know.  I am wildly in to health, wellness and prevention and think this could change the face of medicine as we know it.  I don’t know why we don’t publicize it more.  As I am sure you know, it has such implications for diabetes and obesity the major illnesses that plague our society!!!!

I would love to pick your brain if you ever have time and any information you can send me from a clinical standpoint I would love to have.  I would love to do some clinical trials if you need me to do that.  I have over twenty positive patients that I know of that are positive who would be more than happy to be in a study.

I am also looking for a good functional folate test if you have any info on that.

Call any time, cell phone xxx-xxx-xxxx.

I am very interested in your thoughts of how to best treat those that are positive and the B12, folate options and route of delivery that you think most beneficial or other supplements or treatments.

Thanks, look forward to hearing from you.


Hi xxxxx –

Great to hear from you. Thanks for writing.

I’ve been studying this mutation for some time now. The more I study MTHFR, the more questions I have. The massive amounts of questions made me realize that I need to step back and learn all I can first about folic acid.

In simply studying folic acid by itself, a ton of lights finally turned on that were fuzzy prior.

So I encourage you to learn all you can about folic acid first. How it is made, how it is broken down, interactions, how to test for it, functions, types, how it gets activated, …

In working with MTHFR, there are a ton of nuances with people. It is not possible to simply treat the MTHFR mutation (I wish it was that easy) – you have to treat the person. Their lifestyle and dietary choices are what make the mutation so harmful in the first place. Without improving those, simply addressing MTHFR is not effective because many times people will feel worse.

Clinical trials would be great. We need to come up with questions first about that – study design. I have a couple right away.

Many people with MTHFR test high in their serum folate and B12. My belief is that is because they are not able to convert them to the active forms. Both serum folate and B12 are the Inactive forms. So testing these is useful but not ideal.

Why would testing inactive forms of folic acid and cobalamin be useful? If someone has high levels of folic acid, that is not good. This means there is a block in their body’s ability to process the folic acid into active forms or it simply means they are taking too much folic acid. As you and I both know as physicians, too much folic acid can increase the growth of pre-existing cancer cells.

If someone has too much cobalamin, then that tells me they are likely taking the wrong forms of it.

There is a RBC Methylfolate value that is valuable to measure. I’m in the midst of locating a lab that will do that.

Amino acids, FIGLU and a bunch of other organic acids are also useful to measure.

Measuring B12 levels is best done by looking at methylmalonic acid, history, their tongue and I’m sure other metabolites that I have not yet looked into. Keep in mind that methylcobalamin is destroyed if someone takes 500 mg of ascorbic acid at the same time.

In terms of which folate is the best form, in my opinion, due to safety and the lack of MTHFR enzymatic function, the only prudent form to use is methylfolate. Methylfolate has many names and they are: Metafolin, 5-MTHF, L-5-MTHF, Methylfolate, Quatrefolate.

In terms of which B12 is the best, in my opinion, due to safety and presence of environmental chemicals and heavy metals, only two forms stick out: methylcobalamin and hydroxycobalamin. Most do well with methylcobalamin but have to start it slowly. If people do not do well at all with methylcobalamin, there are things you to need to suss out such as overmethylation, too rapid of detoxification, and others.

The Methyl folate trap is something to be fully aware of. You can give all the methylfolate you want to a patient or person, but if they don’t have enough methylcobalamin on board, the methyl group on the methylfolate is trapped – it doesn’t get released. This may explain why many people still mention they do not feel well, or still having their chief complaints, still even though they are taking very high dose methylfolate.

If people cannot release the methyl from methylfolate due to lack of methylcobalamin, you may as well be offering them sand.

Oral routes of these is sufficient. I prefer sublingual methylcobalamin over capsules but even capsules seem to raise methylcobalamin levels. I know this because of the immediate effect I see from people.

If you can get a blend of methylcobalamin and methyfolate in a sublingual, that makes it easy with children and even adults. Remember how important it is to give methylfolate with methylcobalamin to prevent trapping. Now there are some people that will not respond well to this combination – and there are MANY reasons for this. However, there are also many people that will respond favorably.

For those with high homocysteine levels or having the C677T MTHFR mutation, I am finding that the nutrients found in HomocysteX are proving to be very effective.

If you are wanting to use prescription drugs for MTHFR, than I feel the best one out there is MetanX.

Dr Neil Rawlins, out of Washington state also, has some videos on YouTube on MTHFR – on his MTHFR Solutions channel. The videos may be helpful for you. They are pretty basic but they give some good information.

Lab testing is difficult to keep affordable. I am looking for the best and most effective lab test out there that is easiest for patient, client and physician. Right now I am using Metametrix Amino Acids, Metametrix Organic Acids, Metametrix Cardio ION, Metametrix ION and considering the Genova NutraVal test along with their NutriGenomic Testing. These tests are expensive but they do provide much information.

Lab testing also depends on the type of MTHFR mutation an individual has. Those with A1298C mutations should have their biopterin/neopterin levels evaluated and Metametrix has a panel for that. I’d really like to see a test for peroxynitrate and super oxide. Those, I believe, are commonly elevated in those with A1298C MTHFR mutation and if those are elevated, that is in serious need of lowering as they are highly toxic neurologically.

Dr Amy Yasko has some great information on the web in various places. She is truly remarkable when it comes to explaining methylation. She works mainly with autism. What we need to know as physicians is that autism is highly related to MTHFR defects as many children with autism are compound heterozygous MTHFR.

I actually am developing a lab test specifically for those with MTHFR. This lab test will help the physician identify nearly all the functional markers needed in order to effectively help their MTHFR patient.

I am consolidating all my information right now on MTHFR and once I have it all organized, I will create videos and post them.

The most important thing that we can do as doctors is to identify the type of individual that may have the MTHFR mutation and then TEST them for it. If we do that, that in of itself is a huge step.

In the meantime, let’s keep in touch and find other doctors who are in the same boat.

There are millions of people with MTHFR and only 100’s of doctors (or less) know how serious it is.

We need to get this out there.

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6 Responses to “MTHFR is in my Clinic: Twenty Patients and Twenty Questions”

  1. andrea whitcomb February 25, 2014 at 2:24 pm #

    Can you send me information about the methylfolate deficiency in relation to epilepsy, esp appearing in adulthood. Thankyou.

  2. Stormy Griffith March 27, 2014 at 3:05 am #

    I’m Homozygous C677t .I also have protein C deficiency that I have no info on .My dr says to be on folic acid but everything I read says not to take that.As far as I know there are no drs in Arkanasa that know about MTHFR .Please help me

  3. Mara September 11, 2014 at 8:23 pm #

    I realize 500 mg of Vit C destroys B12 if taken at the same time. Would time / extended release vitamin C (1000 mg) affect the B12 too?

  4. Sierra September 4, 2016 at 1:57 am #

    Which mutation would be most commonly associated with fructose malabsorption? I have homozygous c677t and are gluten and dairy free and still having intense upper stomach pain.

  5. Stacy Lundblad September 6, 2016 at 2:11 am #

    I have issues with a burning mouth and believe that fructose is the culprit. I was given 5HTP and also gingo Baloba plus gelatin Do these help with the fructose issues in the esphogus and small intestines? Yes I have homo 1298.

  6. Randy June 8, 2017 at 12:06 pm #

    Form Genetic Testing for MTHFR and Beyond – An Introduction and Discussion for Herbalists:
    Any Thoughts?

    Dr. Walsh also suggests the Niacin Flush Test. It can be done as follows:
    1. Give 50mg of nicotinic acid on an empty stomach. If they flush, they are likely low in
    methyl and high in histamine.
    2. Give 100mg of nicotinic acid on an empty stomach. If they slightly flush, they are likely
    balanced in histamine and methyl.
    3. Give 150mg of nicotinic acid on an empty stomach. If no flush, they are likely over

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