No, that is not a swear word.   It stands for: Methylene tetrahydrofolate reductase.  It is a human gene and it is something I learned about last week when we went to see a Naturopath.   At the appointment I rattled off Sara’s laundry list of symptoms and diagnosis’ and waited for the confused and puzzled face, but instead…she just smiled at me. Then I went on to tell her how we removed Gluten and Dairy and essentially CURED our daughter and I waited for the look of skepticism, but instead the smile got bigger!?  I told her how we brought dairy back and lost all of the success and that I was now wondering about other food sensitivities.  And, that I came there hoping that she could do some blood work, or testing, to help me know which foods we should avoid, and she pretty much floated out of her chair.

That was when she told me “I can help you!!  This is what I do!  I am so excited that you came here!!”  She then proceeded to tell me all about the MTHFR gene and what is happening to my daughter.  It is all very technical but I am going to really simplify it give you the “MTHFR for dummies” version.  Please feel free to email me any flaws in my explanation.

MTHFR is a gene that instructs the body to make an enzyme necessary to convert vitamin B9 into a usable form.  It is responsible for the Myelination process  also known as the Myelination cycle.  Myelination has a direct effect on many systems in our bodies;  the Digestive System, Sensory System, Cardiovascular System and Neurological System etc.  They all work together like gears of a clock and the Myelination Cycle is the mechanism that moves them along and helps them run smoothly.

Here is a Graphic that I made to give you a visual:

MTHFR copy


Like any gene, the MTHFR gene can be defective in some people.  In fact, she said many people would probably test as having a mutant MTHFR gene but not show any symptoms and it would not be an issue.  It really depends on HOW defective the gene is – so, if you had a gene that was defective but functioning at 97% you would probably have no issues and all systems would still run smoothly.  If your gene was only operating at 75% you might start to see minor impairments in some or all systems.  You might present with some Neurological issues (ADHD for example) and maybe have some tummy issues.  But if your gene was defective and performing at only 30% you might see some severe issues and have multiple diagnosis’ across all the systems.

Just like my Sara.  She has Sensory issues, Digestive issues, Neurological issues on and on.

There is a genetic component to this mutant gene and if both parents are carriers the impact can be more severe.  A double whammy effect.

There is no cure.  There is no medicine.   But through dietary changes you can alleviate the vast majority of your symptoms!  How?  Let me explain:

If you have a defective MTHFR gene that means your body isn’t able to successfully complete the methylation process, which is crucial for detoxing all the chemicals we encounter every day and is a key function for survival in the human body. Folic acid is particularly toxic:  The MTHFR mutation, which affects approximately 40% or more of the population, does not convert the synthetic folic acid into folate. Hence your body cannot use the vitamin (B9) it so desperately needs, nor can it produce other B vitamins, necessary for life. The folic acid builds up in the bloodstream, unable to complete the methylation cycle which is vital for detoxification.

Folic acid is added to all wheat products (mandated by the government) to replace the folate taken out of the flour when it is ground.  This allows for a longer shelf life and is believed to prevent birth defects.  This is also why an elimination diet is the best “treatment” for MTHFR gene defect.  You simply do not ingest the foods that you cannot process properly.

A typical MTHFR diet (to my understanding) is essentially Paleo.  No grains (wheat, barely, rye, oat, corn, rice, quinoa etc) and no dairy.  You eat what the cavemen ate; meats, seeds, berries, nuts, fruits and veggies.  In addition you need to add supplements like myelinated B12 (regardless of bloodwork that shows you have good B12 levels) and other supplements to scaffold your bodies inefficiencies.

Myelination is also critical for normal, everyday functioning of the brain. Myelin increases the nerve fiber’s conduction by up to 100 times, and so when it breaks down the consequences can be devastating.  Deficiencies of myelin in the brain and spinal cord can lead to difficulties with vision and movement.

Again, this is an over-simplified version of this process – a more scientific explanation can be found here – but I really wanted to make it simple enough for most people to understand.  I think when we understand something we are more likely to connect to it and I think this is valuable info for anyone with a child who has numerous diagnosis’ across many areas.

***  Here is another amazingly simple explanation of MTHFR:



Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s