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MTHFR / Hyperhomocysteinemia
30 min

The MTHFR gene is a gene that provides instructions to the body to produce an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme plays a crucial role in a process called methylation, which is important for various bodily functions including DNA synthesis, neurotransmitter production, and detoxification.

The MTHFR enzyme breaks down homocysteine and folate in the body. The MTHFR gene that codes the MTHFR enzyme may undergo a mutation; as a result, this mutation incites the MTHFR enzyme to function abnormally or become deactivated.  The MTHFR enzyme helps regulate detoxification and the immune system, and also repairs cells.

MTHFR gene mutations are variations in the DNA sequence of the MTHFR gene that can affect the activity of the MTHFR enzyme. A considerable percentage of the world’s population has at least one variant of this gene. The most common MTHFR mutation is called C677T, and it can cause a decrease in MTHFR enzyme activity by up to 70%.This decrease in enzyme activity can lead to a buildup of a substance called homocysteine in the blood, which is associated with an increased risk of cardiovascular disease, stroke, and other health problems.

Though further research is underway on the MTHFR gene, it’s been suggested that those with this gene mutation resulting in hyperhomocysteinemia may experience issues with inflammation, memory, immunity, migraines, depression, cognition and sleep. By restoring some of the common vitamin/nutrient deficiencies seen in this condition, homocysteine levels may begin to decrease, resulting in an improvement in some of these symptoms.

If you have been diagnosed with an MTHFR gene mutation, it is important to work with your healthcare provider to develop a personalized treatment plan. This may include taking supplements such as folate and vitamin B12, which can help to lower homocysteine levels and support methylation processes in the body. In addition to nutraceuticals, we offer premium injections designed specifically for methylation support/ improvement in homocysteine levels as well as IV therapy. 

It is also important to maintain a healthy lifestyle, including a balanced diet and regular exercise, to support overall health and wellbeing.

Having an MTHFR mutation is not exactly something you would know about because not many people get tested for it at all. In many of our blogs, we described the MTHFR gene as an enzyme that converts the folate you eat from food into the active form – 5-Methyltetrahydrofolate. Having a mutation greatly affects how much folate your body will be able to metabolize and absorb.

More than folate absorption, the MTHFR gene is also heavily involved in the process of methylation which is responsible for converting homocysteine into methionine, a substance the body needs for proper metabolism and muscle growth and which is needed for glutathione creation. The process of methylation also involves the enzyme from the MTHFR gene, so those with a mutation may have trouble effectively eliminating toxins from the body.


Those with a MTHFR gene mutation have a highly reduced ability to convert folic acid or even folate into a usable form. Research estimates that as much as half of the population may have an MTHFR gene mutation, though there are many variations of the mutation, depending on how the gene was passed down from the parents.

With that said, if you have an MTHFR mutation you would be doing your body a favor by having a lifestyle that caters to specifically for people diagnosed with a mutation in their MTHFR gene. Though it isn’t possible to change a gene, there are things that can be done to minimize the potential for problems or to help avoid problems in children.

Below are some diet tips as well as other helpful information on how to cope with an MTHFR mutation.


It is important to focus on gut health so that the body can absorb the nutrients from food as effectively as possible especially when you know your body is unable to use nutrients efficiently. Support your gut with fermented foods and homemade broth. Avoid vegetable oils, processed grains, refined sugars, and even antibacterial soaps.


As mentioned, those with an MTHFR gene defect have an impaired ability to eliminate toxins. Avoid plastics, chemicals in beauty supplies and cleaning products. Even scented candles aren’t good for you since they release harmful chemicals in the air. When cleaning indoor air, use houseplants instead and make sure you filter your drinking and shower water too.


Folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic.avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms that my body can use. Also take a methyl-B12 which is supposed to help the body use L-MTHF.


Dark leafy greens contain the methylated forms of folate that those with a gene defect need. As if we needed more reasons that it is important to consume green veggies. We’re talking about the likes of spinach, kale, bok choy, and Swiss chard. You don’t have to go at grass like a goat, just adding a small portion per meal is good enough.


Many processed foods have synthetic folic acid added as well as how they’re just not healthy for you. Eat hormone free, grass-fed meats, grass-fed butter or ghee, and organic free-range eggs. The key here is to eat something the way nature intended and not how large-scale factories want it.


Heavy metals in diet or environment are harder to remove from the body for those with a gene defect. Remove mercury amalgams from a trained biological dentist. Avoid aluminum exposure in antiperspirants and cookware. Help remove toxins using liposomal glutathione.


  • According to NutritionData, the best sources of folate per 100 g serving are:

  • Beans and lentils (~50% RDI)

  • Raw spinach (49% RDI)

  • Asparagus (37% RDI)

  • Romaine (Cos) lettuce (34% RDI)

  • Broccoli (27% RDI)

  • Avocado (20% RDI)

  • Oranges/Mangoes (~10% RDI)

  • Research show a folate-rich diet can match the homocysteine-lowering effects of either a regular folic acid or 5-MTHF supplement.


Your body’s ability to convert homocysteine is impaired if you have an MTHFR mutation. If your homocysteine levels are abnormally elevated, it can result in an increased risk of heart attack and stroke. Cognitive impairment, mood disorders, congenital defects and pregnancy complications may all also be significant problems. High homocysteine levels also appear to be correlated with incidences of PCOS. No one agrees on an upper limit for safe homocysteine level;.

If your homocysteine levels are high, there may be benefits in supplementing certain vitamins to help improve your levels.


Since your body’s ability to detox properly is impaired, you would be doing it a favor by initiating your own little detox routines. If you don’t detox and your body also has trouble detoxing, the body can become over-burdened by heavy metals such as copper, lead, or mercury, or by environmental toxins like BPA, or by normal body waste like excess estrogen.

Some detox regimens include infrared sauna sessions, Epsom salt baths, and regular exercise or sweating.


Nutrients from food are great but if you find yourself unable to procure food rich in nutrients you need then you really have to take something exogenous. Methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics are excellent supplements your body will love more so if you have an MTHFR mutation.

A word of caution: if you are double homozygous for MTHFR mutations, you should advance carefully with methyl-B12 and methyl folate supplementation. Some patients with this type of mutation can’t tolerate high doses.  Also, avoid taking high doses of niacin (vitamin B3), which can hinder methylation.


Building a lifestyle around an MTHFR mutation isn’t really all that difficult as a large part of it is mainly about living a healthy lifestyle filled with a proper diet and a good amount of exercise. Granted those with MTHFR mutations need to be more careful around the use of synthetic substances and products as well as eat more of food that will help them detox and methylate but the adjustment only really looks hard on paper. Once you’re inclined to live a healthy life, these little tweaks aren’t really that much to think about. The key is consistency and awareness plus regular testing.

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