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.

12 Responses to “MTHFR Basics from Dr Erlich”

  1. Abby March 3, 2012 at 1:07 am # Reply

    Just checking to see if you know of any doctors in the Chicago area knowledgeable concerning this issue?

    • Dr Ben March 4, 2012 at 6:28 am # Reply

      Please check the page: Find a Doctor I do not know of any personally at the moment.

  2. Josh March 12, 2012 at 7:03 pm # Reply

    If the majority of patients have a MTHFR mutation, why don’t more people show symptoms? Or is it just that the people who do have symptoms are the ones seeking treatment thus skewing the data?

    • Dr Ben March 12, 2012 at 9:34 pm # Reply

      Josh –

      A lot of people with MTHFR defects do express symptoms. The issue is many are being ‘treated’ with various meds or supplements which are not specifically targeting the repletion of methylfolate. While these patients’ symptoms may be ‘improving’ it is more likely they are being worked around vs hitting the MTHFR defect directly by supplementing with methylfolate and methylcobalamin.

      Read this article on MTHFR Screening

  3. kelly May 16, 2012 at 2:37 pm # Reply


    reading this site with great interest. i am carrying a single defective copy of 677. my husband apparently is also carrying at least one too since we have 2 double copy kids(677) – we have not tested all our kids yet. i was the mom who wrote in and asked how exactly its passed down (odds) , whod had a mild stroke at 37 . anyway, my mom had many many miscarriages and at one point her doc was ordering cyanocobalbimin injections. her health turned worse and they ended up wondering if she had luekemia and did a bone marrow biopsy (15 yrs ago) and they determined she had way too high levels of b-12 . (im surmising my copy came from her at this point). my gramma was a schizophrenic and died at 56 from a massive heart attack /atherosclerosis. i asked my parents to consider testing my siblings last week – one whose had extreme bouts of depression,anxiety,rage,and ocd,IBS and was on many physcotropic drugs from about age 9(hes 18). their doctor couldnt find a “code” for the mthfr test and ordered a b-12 level . what will a b-12 level tell them if anything? the doc told them that if it comes back low then he has “grounds” to order the mthfr test.( id assumed with our family history, that that would be grounds enough . ) im obviously worried it would be normal or even high and the doc will then not want to order him the MTHFR test. (they have BCBS for insurance in fl. )

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

    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 # Reply

      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!

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

    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.

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

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


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