Frequently Asked Questions

MTHFR gene mutation is a small error in the gene that makes the methylenetetrahydrofolate reductase (mthfr) enzyme, which converts folate or folic acid into its active form. The mthfr mutation makes the enzyme slower and less efficient so people with this mthfr genetic disorder can have health problems related to folate deficiency.

The mthfr genetic mutation can include symptoms like fatigue, depression, anxiety, or medical issues like high homocysteine, multiple pregnancy loss, and fertility troubles.

The mthfr and folic acid toxicity can also increase the risk of more serious illnesses like cancer and Alzheimer’s disease if it remains untreated.

MTHFR overmethylation treatment is relatively simple, just follow the steps to make sure your active folate level is high enough. to make sure your active folate level is high enough.

The MTHFR gene mutation causes many health problems because it makes it harder for your body to activate folate. Active folate, or 5-L-MTHF is used for everything from building healthy babies to making neurotransmitters. The most common symptoms of mthfr are fatigue, depression, anxiety, inflammation, high homocysteine, and mthfr fertility issues.

The MTHR gene mutation variants can also increase your risk of more serious health consequences like cancer and Alzheimer’s disease if it is left untreated.

The mthfr gene mutation can not be changed, but you can avoid the health consequences by following a good MTHFR health plan or quality MTHFR diet.

If you have an MTHFR gene mutation, your body has difficulty detoxifying heavy metals, because metals need to be methylated to be eliminated, and to methylate anything you need good amounts of active folate or 5-LMTHF. The MTHFR gene enzyme is responsible for converting folate into its active form. 

The most important thing you can do to begin to properly detoxify heavy metals is to boost your methylation by taking a 5-LMTHF supplement, avoiding foods fortified with folic acid, a folic acid-free diet like pasta or rice without folic acid, folic acid-free bread, and flour, which makes the MTHFR enzyme even less efficient, and by eating foods high in natural folate like beans, pulses, avocados, and asparagus. 

You can also take supplements like spirulina or cilantro to encourage heavy metal detox, but if your methylation isn’t working well then these supplements will make you feel bad because they will release heavy metals into the blood but you still will not be able to liberate them, so methylation first, supplements second.

Another wonderful way to detoxify heavy metals is by sweating them out in a sauna. Research has shown that small amounts of heavy metals can be released through sweat, and this process does not rely on methylation. The key is to sweat regularly and shower after so that the heavy metals don’t stay on your skin because you might reabsorb them.

Detoxifying heavy metals is a slow process and it is important not to push your body faster than it is able to go.

Testing for the MTHFR gene can be done several ways. It could be ordered by your doctor, which will likely include MTHFR C677T and MTHFR A1298C. This route can be expensive without insurance, but is necessary if your doctor is using that information to change your treatment protocols. The most likely situations that would lead your doctor to order testing are repeat pregnancy loss, abnormal blood clotting, or treatment resistant depression.  Many doctors are unwilling to order the methylenetetrahydrofolate reductase (MTHFR) mutation test, but there are a number of ways you can get this information yourself.

Home DNA testing options such as 23andme.com and Ancestry.com give you simple options to test MTHFR and a number of other related polymorphisms as well.  These services will not interpret the data for you because they are not medical services, but you can download your raw data and upload it into one of several services to interpret the results.  

My favorite of these is Geneticgenie.org, which offers a methylation panel that includes MTHFR and other relevant gene SNPs like COMT, along with an analysis of those results. They are donation based and ask for a small donation to perform this service.  All in all this is my favorite option because the price is good, the raw data is extremely extensive, and there are so many free or low-cost services you can use to analyze the data for different traits.

If you prefer to have a comprehensive analysis of your methylation related gene SNPS, the Strategene test is targeted toward methylation and includes the methylenetetrahydrofolate reductase mutation test along with related gene SNPs. 

MTHFR symptoms vary widely from person to person, but the most common are fatigue, anxiety, depression, perfectionism, allergies and sensitivities, high homocysteine, difficulty sleeping, estrogen dominance, multiple pregnancy loss, and fertility troubles.

Most people with the MTHFR gene will have one or more of these symptoms and may have less common symptoms like abnormal blood clotting, or may experience conditions that are associated with the MTHFR gene mutation like hypothyroid, autoimmune disorders, rheumatoid arthritis, cancer, histamine sensitivity, ADD/ADHD, autism and spectrum disorders, or addictions.

MTHFR treatment varies from one individual to another, but it follows a general framework. The first step is to eliminate folic acid from your diet and supplements because it actually slows the action of the MTHFR enzyme even more than the genetic mutation does. After the harmful folic acid is out of your diet you can add in good food sources of natural folate. This isn’t foods that have been fortified, like grain products, it is things like dark green leafy vegetables, beans, pulses, and avocados that naturally have healthy folate within them.

Aim for 400 mcg of natural folate per day. It is important to get all the B vitamins, not just good folate because all of these vitamins are necessary to make cellular energy, build healthy neurotransmitters, and balance your MTHFR genetic mutation.

Finding the right B12 is important with MTHFR because methylB12 makes some people feel jittery. After this, it is necessary to add something called a methylation driver. Activated folate, or 5-L-methyltetrahydrofolate, is the most effective but some people don’t tolerate 5-LMTHF. To give you an idea about your tolerances it can be useful to determine your MTHFR basic state, which could be overmethylator or undermethylator. Your basic state will help you to determine what supplements you will tolerate best. Overmethylation treatment often looks very different from undermethylation treatment even though the basic steps are the same.

Supporting detoxification is another important part of the treatment for MTHFR mutation, as well as eating a diet that gives you lots of antioxidants and reduces inflammation. This is part of the MTHFR lifestyle. For more information on treating the MTHFR mutation, see the Start Here document.

While there is no one-size-fits-all treatment protocol for MTHFR, there are some things that are necessary for all. First, it is important to eliminate folic acid from your diet, in the form of fortified or enriched grains, and also from your supplements and multivitamin. A good MTHFR multivitamin will have methylfolate, or 5-LMTHF, instead of folic acid, which is actually harmful to MTHFR issues.

It is important to get all the B vitamins as a group, not just a good source of folate, because they all work together to make the methylation cycle work and also to do all the things that MTHFR is supposed to do, like help you have healthy cellular energy. Riboflavin is especially important as it is a cofactor for the MTHFR enzyme. B12, in whatever form you tolerate, is also important because taking folate can mask a B12 deficiency.

It is also important to have a methylation driver. The most ideal one is 5-L-methyltetrahydrofolate, or 5-LMTHF, which is the active form of folate, but not all people with the MTHFR mutation will tolerate that.  If you feel jittery or anxious with 5-LMTHF, then consider trying folinic acid, SAMe, or another alternative.

Antioxidants are another supplement that can really help to repair some of the damage that may have accumulated with an MTHFR mutation.  Especially supplements that boost glutathione, your master antioxidant, like NAC or liposomal glutathione.

L-Methylfolate, while it is the best methylation driver for MTHFR, can be difficult for some people to tolerate.  In general, it is important to try to get 400 – 600 mcg combined of natural folate in your diet and L-methylfolate in your supplements. 600 mcg if you drink alcohol or live in an extremely sunny climate, and 400 mcg as a bare minimum.

Special circumstances like pregnancy, fertility preparation, or nursing will increase the amount of methylfolate you need and in these situations, it is important to work with your doctor or practitioner, but 1,000 mcg of L-methylfolate is a good baseline.

Many people think that a different amount of methylfolate is needed for the MTHFR C677T variant or the MTHFR A1298C variant, but the amount that is best for you is more personal than that, and the best way to optimize is by seeing how you respond to higher doses. The numbers I have given here are the minimum amount of methylfolate you should take.

With MTHFR it is absolutely crucial that you avoid folic acid in supplements and also foods fortified with folic acid. In most developed countries, grain products like wheat or corn flour are enriched with folic acid and should be avoided. Organic grains, or foods without folic acid, are fine.

There are some medications that should be avoided with MTHFR as well. Antifolate agents like methotrexate are more difficult for people with the MTHFR mutation to cope with and so it is important to discuss your genes with your doctor before starting them.

Also, nitric oxide, which is a sedative often used for dental procedures, can cause very bad reactions for people with the MTHFR mutation.

Methylcobalamin, or methyl B12 is the best form for MTHFR mutants generally because it is already active and doesn’t need an added methyl group to be effective.  With MTHFR B12 is extremely important because it helps the active folate to be utilized by your body. For some people, however, the methyl form makes them feel jittery and in these cases, the adenosyl or hydroxy forms can be used as well.

While many supplements give higher amounts, 100 mcg per day is usually enough to normalize B12 levels even if there has been a deficiency.  It is important to use regular blood screening annually to make sure you are not B12 deficient. Also, B12 absorption declines with age so elderly patients may need 500 mcg or even 1000 mcg daily to prevent the B12 deficiency. 

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