MTHFR Basics from Dr Erlich

There is much confusion about MTHFR genetic mutations. While a source of much research, conventional medicine remains unable to agree on its clinical significance. Consequently the MAJORITY of people unknowingly carry a genetic mutation that can contribute to significant health issues – health issues that can be minimized by just taking a couple inexpensive B vitamins.

I am a holistic pediatrician and, for the past 2 years, I have tested almost every one of my pediatric patients for the MTHFR mutations. Over this time, I have found the majority of my patients (about 75%) have at least a single MTHFR mutation and upwards of 40% of my patients have a double mutation (either heterozygous (one of each) A1298C & C677T, homozygous (two) C677T or homozygous A1298C). The other doctors in my office also find similar percentages amongst their adult patients. Many research journals confirm similar frequencies, but often only test one or the other mutations. So this is a very common mutation – don’t let anyone convince you otherwise.

What does the MTHFR mutation do? Having a MTHFR mutation means that the enzyme that converts folic acid into it’s activated form (5-MTHF) acts sluggishly. Having two defects at the same point makes it more sluggish than just having one. As taught in basic chemistry, enzymes are the “rate limiting factor” to any biochemical reaction. Thus when an enzyme is sluggish, the biochemical reaction that relies upon it occurs slower than it should. When one pathway is working slower than others, the other pathways that depend upon it either back up or find a detour to shunt their excess product. Similar to what you may see on a highway, detour pathways are usually not as efficient, using more energy (ATP), and are prone to back ups, often causing new problems to be managed.

The MTHFR enzyme metabolizes folic acid into 5-MTHF, needed to combine with homocysteine to break it down and to facilitate methylation processes in the body. Thus, what is often seen with MTHFR mutations are: elevated homocysteine levels and defective methylation.* High homocysteine is associated with increased heart disease risk, strokes and blood clots. When the MTHFR mutation is correctly supported through vitamin supplementation (nutritionally bypassing the mutated enzyme and redirecting the pathway with B12 and sometimes P5P), homocysteine levels decrease, often quickly and dramatically, and patients see results clinically.

[*Homocysteine levels will often be normal even in the face of homozygous MTHFR mutations. I see this occuring frequently in children, whose homocysteine levels typically are much lower than adults (homocysteines of 4-6) whereas normal adult levels are 8. Thus a normal homocysteine does not at all promise a normal MTHFR genetic profile. Homocysteine levels can be elevated in people who have B12 deficiency, as B12 is a cofactor in the breakdown of homocysteine. Thus high homocysteines do not promise MTHFR mutations either.]

Methylation is required for many processes in the body, from breaking down histamine, seratonin and dopamine to turning DNA on and off. Consequently, having a defective methylation capability is associated with psychiatric illnesses, such as schizophrenia, depression and bipolar, as well as autoimmunity disorders, ADD, autism, spina bifida, Down’s syndrome, miscarriages, and cancer. Defective methylation can come from not having the 5-MTHF or not having enough B12, so the disorders and symptoms associated with the MTHFR mutations often overlap with those due to B12 deficiency. Many may simultaneously have deficiencies in both. As B12 helps to redirect the detour to the more efficient pathway, I always recommend that my patients with MTHFR mutations take both 5-MTHF and B12.

While I don’t test every one of my patients for the MTHFR mutation, I certainly try to test everyone who has a family history of cardiovascular disease, mental illness, autoimmune disorders, spinal cord defects, cancer or miscarriages. As these disorders are all too common, this explains why I end up ordering MTHFR testing, as well as B12 levels, on the vast majority of my patients.

I find that knowing your MTHFR status is far more empowering than it is scary. It allows you to provide your body with what it needs to function most efficiently and hopefully prevent disease. Finding that you have a mutation, or even two, also encourages you to get your other family members tested. Parents and siblings may likely also carry this mutation and often benefit greatly from the additional knowledge and support.

About the Author:
Katherine Erlich, M.D is a board certified pediatrician practicing at Healing the Whole Child in West Bloomfield, Michigan. She takes a practical and individualized approach to pediatric care that focuses on the principles of health, wellness, and the safe resolution of illness. She is dedicated to integrating treatments that use natural methods to stimulate healing, recover balance, and support the body’s own resilience. Dr. Erlich, along with nutritionist Kelly Genzlinger, just recently authored a book, titled “Super Nutrition for Babies” in which they explain why and how to provide optimal nutrition to your child so to maximize the long-term health and wellness.

15 Responses to “MTHFR Basics from Dr Erlich”

  1. Christine March 6, 2014 at 12:53 am #

    I am homozygous for the A1298C and have suffered from anxiety and depression since I was young. My doctor said I am not deficient in B12 however. Does this mean I can skip the B12 and just take the MTHF? Or do I still need B12?

    • Jenni September 16, 2014 at 2:06 am #

      Hi Christine- Did you ever figure out if you need to take B12 or not. I am also homozygous for the 1298 and have normal B12 levels. It’s confusing– not sure exactly what to take. I’m currently just taking a small amount of Methylfolate and documenting good and bad symptoms, as I slowly add more over time. Please let me know what you have discovered in your treatment. Thanks!

  2. Mary Ann Kreitzer March 18, 2014 at 2:00 pm #

    I’m 67 and was recently diagnosed with Myasthenia Gravis. Is it likely that if I have this mutation that Vit. B 12 and folic acid would help? I’m on mestinon and while it cleared up my slurred speech, I am still having double vision and a drooping eyelid.

    • sue Medina October 6, 2015 at 3:27 am #

      Has anything helped your double-vision ? Did you find the cause of your double-vision?

  3. Carrie Wolf March 27, 2014 at 12:57 am #

    Is there a thyroid tie to this? How does It manifest ? Can the low thyroid be corrected by improving the methylation process?

  4. Caroline May 14, 2015 at 2:01 pm #

    Hi. I am a 19 year old female with some form of this gene. I have been taking 15mg Deplin for about two and a half years now and so far so good. My panic still cycles and shows up for about a week each month. I am pretty sure it is related to my estrogen levels. The problem is that my periods are so irregular so it makes it hard to track the panic attacks in relation to my cycle. I was just wondering if you knew of any way to manage this better. I don’t have a doctor who knows about this and I live in a pretty small town. The nearest doctor that knows anything remotely related to MTHFR and genetic abnormalities is a 5 hour drive away and we just can’t afford that right now. Thank you for reading.

  5. Angela Bush November 16, 2015 at 10:52 pm #

    My name is Angela I am the age 45. I live in the Upper Peninsula of MICHIGAN. In November of 2013, I had 2 brain strokes and the Neurologist , Dr. Miesel, who is now a professor at the University of California, could not figure out why. He tested for everyrhing and finally resorted to the MTHFR. I am double homozygous and as he ruled this as the reasons, He could not give me any assistance. I was left with severe paralyzing Aura’s where I have to take medication 4xs a day to prevent these from happening. I have many health issues , especially Connective tissue disease or Lupus like flares that have been so severe I was getting several flares for over a year twice a month. Not one Dr. Or specialist , especially My Rheumatoid Dr. can help me. She tried methotrexate and Imeron to stop the flares, both made my face go numb instantly and I became extremely sic and toxic.
    I even printed out information on MTHFR for them and it appears where I live, the Dr.S are so bogged with patients they cannot help me with this.
    At times I’ve been so low, I didn’t even care to live, but My son who is 11 and Autistic keeps me going. And keeps me searching and praying for a miracle.
    I am now taking vitamin d drops, fish oil and bilingual b complex that absorbs under the tounge. Sometimes I feel I have to be very careful with dosing and have to use only half. I’m on a constant dose of 10 mg of prednisone, which keeps my flares at bay.
    I feel If I don’t find help soon, I might not be here for my children and my son depends on me. When I’m so sick all of the time, It’s very hard for him too.
    My Rheumatoid Dr. ( the only Rheumatoid Dr. We have here put me on Folic acid, which I heard was toxic for me as well. When I tried to tell her my condition , she said, ” well I just don’t know if I can help you”. My family Dr. Whom tries very hard to help me said, your allergic to yourself and I don’t know what to do! I want to get better. I want to help my body. I do not have financial means to do so. I even seen a very nice hemotologist who did not offer any help for me. I’m asking for true help because I feel I’ve exhausted all of my options. Your assistance in this matter will greatly be appreciated. Your my only hope. Thank you.

    • Dr. Aron December 8, 2015 at 5:32 am #

      Angela – I feel for you. Please reach out to one of the doctors on the Physician Directory–some can do phone consults if they are not in your area. There are doctors out there who are learning more about this, and we’re doing our best to train more doctors. There is hope and there are providers who can help you. There are many more articles on this site that Dr. Lynch has written to give you some ideas of where and your doctor can start. Start by studying a few of them here. Please keep us updated!

  6. Theresa L. Sterling November 17, 2016 at 8:20 pm #

    Dr. Ben,
    I recently had my 23&me test. I have the MTHFR 1298c. I purchased a hydroxy b12 sublingual 2000mcg, Seeking Health b-Minus vitamins, and Seeking Health Optimal Liposomal L-5-mthf 1000mcg. I also have auto immune thyroid at the present that just started a few months ago. I was taking only 25 mcg of the L-5-mthf everyday and hydroxy b12 every day. I felt great for about a week and then horrible symptoms. I read your article on l-methylfolate side effects and how to quickly quench. Some worked a little bit. But my symptoms keep coming back. My sister recently had her 23&me test. and she too is MTHFR 1298 and her blood/cell test came back low in B12 even though b12 was too high in her blood work and deficient in Ryboflavin.

    We do not know what b vitamins will be good for either of us to take. My 23&me says I can only handle hydroxy b12 and L-methylfolate. But, because of my horrible symptoms. (dizziness, headache, slightly nausea, and inflammation in my fingers. All b complex multi vitamins have methyl b12. and I am concerned about large doses of Seeking Health folinic acid. I only took a very little bit! So, I am very upset and do not know what to do! Doctors have no idea what I am talking about. My Endocrinologist says to take the vitamins but not doses.

    Thoughts and guidance please!


  7. Sarah May 4, 2017 at 7:32 am #

    I’m also really interested in a possible link between mthfr and thyroid. I have the a1298c and hashimotos. My husband has the same mutation and we are awaiting his thyroid panel results. We have 2 young daughters and I am concerned about what this could potentially mean for them and how best to support them. They both have mthfr (as they both had tongue ties and both parents with a1298c).


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