MTHFR Resources

An independent researcher, Richard van Konynenburg, PhD., developed a hypothesis that a genetic defect* which causes MTHFR deficiency might be a fundamental cause of ME/CFS and similar illnesses.  Rich's hypothesis was based on Dr. Amy Yasko's work related to the same genetic defect in autistic children.

Essentially, Rich's hypothesis says that the MTHFR genetic defect impairs the body's methylation pathway and consequently its ability to manufacture glutathione, and that an insufficient level of this essential amino acid compound in the body can result in many metabolic dysfunctions. These dysfunctions manifest in diverse symptoms, including fatigue, cognitive impairment, pain, thyroid dysfunction (low body temperature, intolerance of heat and cold), low cortisol levels, low blood volume, poor elimination of toxins and many others associated with ME/CFS and other chronic but poorly understood illnesses.

Rich gave a lecture in Sweden  in 2011 which reviews the biochemistry involved, and then discusses how his hypothesis can explain the many and varied symptoms experienced by people with ME/CFS and similar disorders such as Fibromyalgia, MCS, and chronic Lyme disease.

As a person who has been ill with "Chronic Fatigue Syndrome" for over 18 years, I feel that watching this lecture may have been the most important thing that I have done in my life.

Based on both my personal experience with addressing my own MTHFR deficiency, as well as my experiments with my coil machine, I believe that I was suffering with a chronic Lyme infection, as well as chronic coinfections by pathogens often found in people with Lyme disease. However, I now believe that my chronic Lyme disease and coinfections are only part of the picture.

Equally important is my MTHFR deficiency. As Rich explains, this genetic defect impairs the body's ability to process and eliminate toxins. He points out that toxins place additional stress on the body - and that stress of any kind aggravates the MTHFR deficiency. It's a vicious cycle, and unless action is taken to address the genetic defect, there is no way for the body to recover.

Since the process of killing pathogens with my coil machine was releasing large amounts of toxins, and my body - due to the genetic defect - was unable to efficiently remove these toxins, overall I felt little improvement. During the summer of 2012, when I was at the peak of killing Lyme spirochetes, my condition deteriorated dramatically. Because, I believe, of the buildup of the toxins from their dead little corpses, I felt even sicker than I had earlier in the year.

Now that I am addressing my genetic defect with nutritional supplements which supply crucial nutrients which my body cannot otherwise produce because of the defect, I am experiencing noticeable improvement.

Below are links to resources which have helped me to understand the relationship between my genetic defect and my long-term illness.

Richard van Konynenburg

Lecture, Sweden, 2011 - The definitive discussion of Rich's hypothesis. This video is in three parts totaling over 3 hours, but it is very informative as well as (for me, at least) quite entertaining. Rich was a great speaker and was brilliant at explaining the background biochemistry which ties the MTHFR genetic defect to the myriad complex of symptoms experienced by people with ME/CFS, Fibromyalgia, chronic Lyme disease, and other similar disorders.

See also the Slides in PDF form from the above lecture, and the pages below on Phoenix Rising:

• Glutathione and the Methylation Cycle - Papers discussing the theory behind Rich's hypothesis, and proposed treatment protocols. This page also has links to the three parts of the above lecture.
• A Simple Explanation of the Glutathione/Methylation Depletion Theory of ME/CFS - Just what it says.
  
• Simplified Treatment Approach Based on the Glutathione Depletion- Methylation Cycle Block Pathogenesis Hypothesis for Chronic Fatigue Syndrome (CFS) - Rich's suggested treatment protocol. A modified form was used in a promising clinical trial conducted by Rich and Dr. Neil Nathan.
  
• Is Glutathione Depletion an Important Part of the Pathogenesis of Chronic Fatigue Syndrome? - A (relatively) concise bullet-point presentation of the reasoning behind Rich's hypothesis. Great for review once you've watched the lecture.
• A Tribute to Rich van Konynenburg - A wonderful remembrance of this brilliant and remarkable man. This page also contains a number of interesting and useful links.
 

ILADS Boston 2012 Lectures

In the fall of 2012, ILADS held a conference in Boston. Rich van Konynenburg sadly died a few days before he was scheduled to present a lecture at this conference.

Rich and Neil Nathan, MD, conducted a promising clinical study based on Rich's hypothesis. At the conference, in Rich's absence, Dr Nathan presented a brief overview of the methylation/glutathione biochemistry and a very upbeat review of the results of the study. He also made a related presentation about his work based on Richie Shoemaker's neurotoxin theories and treatments.

At the same conference, Wayne Anderson, ND, discussed biotoxins and the methylation pathway.

All of these videos are available (for $15 each) on the ILADS 2012 Boston Videos page. Dr. Nathan's discussion of partially blocked methylation pathways and the clinical study he conducted with Rich van Konynenburg is entitled "Got Methylation?"

Information and Resources

Here are links to additional sites with more information about the genetic defect and its consequences, as well as treatment information and supplement resources.

Overview and Symptoms

• What is MTHFR? - Overview by Jamie Horn.
• MTHFR Mutation - Overview by Bianca Garilli, ND.
• MTHFR Mutations and the Conditions they Cause - from MTHFR.net, Dr. Ben Lynch's site.
• Symptoms of MTHFR Deficiency - from Methy-Life.com, Jaime Horn's site.

Doctors

• Ben Lynch: MTHFR.net - Very informative site, with a very good video on the main page. Dr. Ben is clearly passionate about this condition. There is an active conline ommunity of people responding to his information and asking questions.
• Read this First
• Neil Rawlins - Includes his excellent video, as well as other useful information
• MTHFR Information - Includes Neil's treatment protocol 
• Stephen Smith
• MTHFR & Fibromyalgia
• MTHFR Related Health Problems
• MTHFR Treatment 
• Gordon Medical - Neil Nathan and Wayne Anderson (see above) practice here.
• Derek Enlander - CFS specialist in New York City; video on main page discusses methylation pathway.

Supplement Sources

• Methyl-Life - Excellent video by Jamie Horn on the main page; useful list of resources. I have the utmost respect for Jamie, and a very deep appreciation for all the information she has shared.
• What is MTHFR?
• Product Comparison - At the bottom of this page is a terrific table showing different sources for methyl folate and methyl B-12. Especially useful for people like me who can't tolerate the high dosages contained in combination products like Methyl-Life and Methyl Guard.
• Seeking Health - Dr. Ben Lynch's site sells supplements and other products aimed at mutants like me.
• Vitacost - Solgar Methyl Folate 400 mcg
• iHerb - Solgar Methyl Folate 400 mcg
• Swanson - Jarrow Methyl Folate and Methyl B-12
• Agape - Jarrow Methyl B-12 1000 mcg lozenges
• Pure Formulas - Jarrow Methyl B-12 500, 1000, and 5000 mcg lozenges
• Amazon
• Jarrow Methyl B-12 500 mcg lozenges
• Jarrow Methyl B-12 1000 mcg lozenges
• Jarrow Methyl Folate 400 mcg
• Solgar Methyl Folate 400 mcg

Make sure you get B-12 lozenges, not tablets or capsules, because only the lozenges are sublingual, meaning they can be dissolved under the tongue. (See below for more information.)

Additional Information

• Depauw University MTHFR Study
• Finding the Root Cause: MTHFR
• CFS Patient Advocate - Discussion of Rich van Konynenburg's hypothesis.
• Vitamin B12: Injectable vs. Oral
• Folic Acid Warning

Notes

Start Slowly!

Several of the doctors above caution against beginning with high dosages of methyl folate and methyl B-12 if you have ME/CFS and/or Fibromyalgia, because these may cause significant side effects as toxins which have built up in the body over the years are released. Rich van K. makes the same caution.

I can attest from bitter experience that this is indeed possible; I experienced excruciating pain for several weeks until I cut way back on the dose of methyl B-12 I was taking, and eliminated methyl folate entirely.

At this time (mid-March 2013) I can only tolerate 500 mcg of methyl B-12 per day, and it took me a while of two days on, one day off to work up to that amount on a daily basis. Any more than that and the pain starts coming back. I hope I'll be able to increase the dosage soon, and add some methyl folate as well.

Sublingual, not Swallowed

Some of the doctors listed above say that methyl B-12 is not absorbed by the stomach lining, or is destroyed by stomach acid. This is why I am using a sublingual version, made by Jarrow. I've been able to order this through various web sites (see above).

Danger: Cyanide and Folic Acid!

Because I have the MTHFR gene mutation, I am always very careful to distinguish between the methyl (active form) versions of B-12 (cobalamin) and folate (B-9) and the inactive forms commonly sold in drug stores and used as food additives.

These inactive forms, cyanocobalamin and folic acid, are not only essentially useless to people with the MTHFR gene defect, they can actually be harmful. (See also the quote from a fellow called Sergio on Rich's Tribute Page: "[Rich] diagnosed a cyanide poisoning I was suffering from taking cyanocobalamine.")

I avoid all foods and supplements containing either folic acid or cyanocobalamin.

Also, I am careful to point out to any doctors who order lab tests that the standard tests for B-12 and folate are useless for people with the MTHFR gene mutations, like me. In fact, my B-12 level was high in a test done last fall, at the same time that my mutation was detected. It was high because, although I'm ingesting plenty of the inactive form from food, my body can't convert it to the active form, methylcobalamin, or methyl B-12.

To my knowledge, the only lab in the US which can test properly for the active form of folate (methyl folate) and related glutathione deficiency and other dysfunctions is Health Diagnostics and Research Institute (formerly Vitamin Diagnostics) in South Amboy, NJ. Rich van Konynenburg recommended their Methylation Pathways Panel.


*Although there are variations by region and also by ethnic background, at least one of the two possible MTHFR genetic defects is estimated to be present in approximately 40% of the world's population. In test sample, approximately 30% had the 677 mutation, while 7 to 14% had the 1298 mutation, which associated with, among other things, Chronic Fatigue Syndrome.