MTHFR Basics


I’ve recently spent some time chewing through how important it is to support the body’s natural detoxification pathways (i.e. mainly the liver) and avoid things that slow this process down. Easier said than done as we live in a very toxic environment for most of us city-dwellers. However recently my interest has been peaked as to a common genetic mutation that may play a very big part in impeding the body’s ability to detoxify properly. In other words, normal stressors like mercury exposure (amalgams, tuna..), pesticides (produce and fruit), hormones and antibiotics (in meat and dairy), heavy metals (in our water and toothpastes), sleepless nights (for all the young parents or those with snoring spouses), or just regular daily stress (traffic, meetings, work…) can take a HUGE toll on the body and immune system if this mutation is present. Pregnant women know well the importance of folic acid to prevent fetal complications but if this mutation is present taking folic acid could actually be harmful because the body will not be  able to transform it into the active form and will cause a toxic buildup of it! Dr Ben Lynch goes as far as to say that all folic acid supplements should be thrown away because they are “trash supplements.”   So let’s go through some basics and please do your  homework in this area and consider getting tested for MTHFR mutations.



  • MTHFR mutation is an inherited mutation of a particular gene that is passed down from father or mother or both (homozygous if we inherit 2 mutations)
  • MTHFR mutations are common and can greatly affect the body’s ability to detoxify and form active vitamins from inactive vitamins (mainly B12 and Folate)
  • MTHFR mutations can have symptoms that range from minor to severe given the person and the environment they live in (see Potential Symptoms below)


Potential Symptoms:

  • recurrent miscarriages
  • mood/behavioral disturbances (anxiety, depression, bipolar, ADD/ADHD)
  • autism
  • hormonal imbalances
  • chronic viral infections (i.e. EBV)
  • sleep disturbance
  • migraines
  • IBS (Irritable Bowel Syndrome)
  • fibromyalgia/Chronic Fatigue Syndrome
  • autoimmunity (thyroid, MS…)
  • alzheimers/dementia
  • cancers
  • diabetes
  • parkinsons
  • neural tube defects, cleft palate, lip tie
  • heart disease (atherosclerosis), blood clotting (strokes, heart attacks, DVT)
*some of these are reversible but prevention is KEY

Highest Risk Populations (for homozygous C677 mutations):

  • Mexican (hispanics) (>40%)
  • Italian
*However 45% of the global population has at least 1 (heterozygous) mutation = 40% loss of methylation and detoxification ability

Labs to Consider:

  • ($99) and (for interpretation) (deeper interpretation for $30)
  • MTHFR mutation and nutrient testing (Spectracell – $40 -$300 pending insurances)
  • MTHFR mutations – labcorp and quest offer serum testing (insurance unlikely to cover)
  • homocysteine (serum)- labcorp or quest (make sure you are fasting)
  • RBC nutrient testing (doctors data)
  • Methylation Pathway Deficiencies (
  • methylation pathways panel (doctors data)
  • RBC glutathione (doctors data)
  • urine organic acids (genova- show b12 and folate deficiencies)
  • Genova Complete Hormone Panel (reveals methylation issues if unable to methylate proliferative estrogens into less proliferative estrogen metabolites)
  • Spectracell Micronutrient Testing to search for nutrient deficiencies ($190 prepayment with insurance- Spectracell offers free MTHFR testing if Micronutrient Test is purchased)

Screenshot 2015-03-19 06.31.48

Basic Recommendations For Those with MTHFR mutations (courtesy of Dr Ben Lynch at

  • Here are the common recommendations for supporting those with C677T MTHFR mutations:
    1. Limit ingestion of folic acid in fortified foods as you cannot process folic acid well.
    2. Limit or cease taking supplements or drugs with folic acid in them. Talk with your doctor before stopping.
    3. Avoid folic acid blocking drugs such as birth control or Methotrexate.
    4. Avoid drugs which increase homocysteine such as Nitrous Oxide (most used in dentistry)
    5. Avoid antacids as they block absorption of vitamin B12 and other nutrients
    6. Begin understanding which of your symptoms may be related to the C677T MTHFR mutation.
    7. Measure homocysteine levels – properly!
    8. Inform your family members so they can also test for the MTHFR mutation
    9. Find a doctor who is knowledgeable about MTHFR or is willing to learn
    10. If you are pregnant, find an OB/GYN or midwife who is knowledgeable about MTHFR.
    11. Eliminate Gluten from your diet – especially wheat.
    12. Eliminate or reduce Dairy from your diet. If you must have dairy, use Goat milk.
    13. Sauna or sweat somehow (epsom salt baths, sports, yoga..) at least once to three times a week.
    14. Limit intake of processed foods
    15. Increase intake of whole foods and home-prepared meals
    16. Eat the Rainbow of colors from fruits and vegetables – daily
    17. Castor Oil Packs over your abdomen daily during times of pain, soreness, cramps
    18. Vegetable/Fruit Juice Diet with Chia Seeds during times of pain, soreness, cramps
    19. Limit intake of high methionine-containing foods if homocysteine elevated
    20. Coffee Enemas during times of detoxification or pain
    21. Filter chlorine from your drinking watershower and bath.
    22. Drink at least two liters of filtered water daily mixed with vitamin C and electrolytes.
    23. Eat smaller, but more frequent meals, throughout the day with some form of protein.
    24. Limit protein intake to approximately 0.7 grams protein per kilogram of body weight.
    25. Remove mercury amalgams and root canals with a trained biological dentist.
    26. Avoid cooking, drinking, storing and heating in any type of plastic container.
    27. Use an air purifier in your home and office
    28. Eliminate carpets from your home and install low VOC wood or tile flooring.
    29. Eat grass-fed beef, free range, hormone free and antibiotic meats and eggs
    30. Cook with electric stove and oven and remove gas stove and oven.

Potentially Used Supplements/Medications (See Caution below)

  • Non GMO phosphotidyl (PC) choline (foods or supplements- from sunflower oil)-
    • only 15% of pregnant women get adequate choline.
  • methionine (in foods or supplements)
  • glutathione or precursers (whey protein, NAC)
  • methylfolate (green leafy or supplements)
  • metanx (rx) – May be too high in methyl-folate for some and cause nasty detox side effects (see article)
  • folinic acid
  • methylcobalamin (2nd leg of the process)
  • SAMe
Simplified But Helpful Animation
Simplified But Helpful Animation
 *CAUTION– It is not recommend to supplement blindly without testing or working with your healthcare profession. There is a danger in worsening of your medical condition or even causing seizures if supplements are taking incorrectly.


*Blog will be updated as we continue to learn about this
Books for further reading:
-Herbs, Nutrients and Drug Interactions by Stargrove

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