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.
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.
Carrying excess weight can be a problem with any set of genes, but MTHFR weight gain is typically for a combination of specific reasons and if those aren’t addressed it can be very difficult to lose weight. With MTHFR the four most typical causes of weight gain are dietary folic acid, high estrogen, low or low-normal thyroid function, and toxicity. For most people, addressing these issues will allow your weight to normalize easily.
Dietary folic acid, specifically in foods fortified with folic acid like bread, pasta, cereal, and pastries, is harmful to people with the MTHFR mutation and it is crucial that you avoid fortified foods. The simplest way to do this is to eliminate wheat and wheat products. This is the most important step for weight loss and for most people makes a big difference on its own.
Estrogen tends to be high in both women and men with MTHFR mutations because we have a difficult time detoxifying and eliminating estrogen and so it can build up. Also, fat cells make their own estrogen and so this problem compounds as weight increases. Reducing estrogens is most effectively done with foods high in lignans. The highest sources are ground flax seeds and sesame seeds. By adding some of these foods daily you can eliminate extra estrogens and see a weight decrease.
People with the MTHFR mutation, especially with two copies of the C677T gene, are prone to low thyroid function, and supporting your thyroid can go a long way to helping you lose weight. Make sure you work with your doctor to test your thyroid appropriately and get medication if you need it. Otherwise, adding food sources of iodine like seaweed or iodized salt, as well as good protein and minerals like selenium and zinc will help restore your thyroid to optimal functioning.
Toxicity and detox are a big issue for people with MTHFR polymorphism because we need to methylate well in order to eliminate heavy metals and a variety of other toxins. It is important to incorporate gentle detox into your routine regularly, like using a sauna to sweat out toxins, hot Epsom salts baths, and using castor oil to help your lymphatic system drain.
MTHFR polymorphism is a genetic variant in the MTHFR gene. This gene codes for the enzyme that converts folic acid and natural folate into the active form, which is 5-L-methylenetetrahydrofolate, or 5-L-MTHF for short. The MTHFR polymorphism makes this enzyme less efficient and so it is more difficult for people with MTHFR to activate their folate.
When the MTHFR enzyme works slowly or inefficiently, lots of processes get backed up like converting homocysteine, which is an inflammatory particle, back into methionine, making neurotransmitters, making glutathione – your master antioxidant, and making nitric oxide, which helps your blood vessels dilate.
The most important thing that happens, however, is that methylation becomes difficult and you don’t make SAMe, which is your major methyl donor, very effectively. This is a crucial process and so optimizing your MTHFR gene will improve your health in a variety of ways. MTHFR can come in a number of forms including a C677T polymorphism, A1298C polymorphism, or a combination of the two.
You will see the advice to cut out gluten entirely with MTHFR all over the internet, but nobody really gives a great reason for it. In truth, gluten isn’t always the problem. With an MTHFR polymorphism, you are intolerant to folic acid, the synthetic crystalline form of folate. It makes the consequences of an MTHFR polymorphism even worse. In most developed countries wheat, wheat flour, and products made with wheat flour are fortified or enriched with folic acid, which makes them harmful for people with the MTHFR mutation. Somewhere along the way, wheat and gluten got confused because there is also so much talk about gluten being bad.
Having said that, many people with MTHFR do develop a gluten sensitivity, possibly due to a reaction with the folic acid that wheat has been enriched with or possibly for the same reasons gluten sensitivities have become so common in general population. In these cases, eliminating all gluten, not just from wheat but from other sources like barley and rye, will help to lower inflammation and control symptoms as well.
With MTHFR it is important to follow a good MTHFR diet plan to optimize your health.
Most doctors either don’t work with or are entirely unaware of MTHFR polymorphisms. Some specialists, including obstetricians, gynecologists, and fertility specialists will test for and consider MTHFR in the context of pregnancy. Some cardiologists or hematologists will test for MTHFR as well – especially after an abnormal blood clotting incident.
The majority of doctors and practitioners who work with the day-to-day symptoms of MTHFR are naturopathic doctors, DABCI chiropractors, integrative doctors, or health care specialists. The best people to work with for MTHFR are people who have MTHFR as an area of focus.
“MTHFR deficiency” is another way of saying that your MTHFR enzyme works more slowly than average. This is the enzyme that converts inactive forms of folate including natural folate, folic acid, and folinic acid, into the active form which is 5-L-methyltetrahydrofolate.
This is usually caused by a genetic polymorphism, or variance, in the MTHFR gene but can also be induced nutritionally by an extremely high dose of folic acid over long periods.
The most common variances with this gene are C677T and A1298C. You are born with two copies of each gene and it is possible to have one or two variant copies in one or both genes.
If you have an MTHFR deficiency, it is important to follow the right diet for your variance and to support your body with supplements to avoid health consequences. MTHFR deficiencies are highly linked to anxiety, depression, fatigue, heart disease, and many other consequences.
MTHFR is a common gene variation that affects the enzyme that activates folate. People with the MTHFR polymorphism have a harder time converting inactive forms of folate like folic acid, natural folate, and folinic acid into the active form, which is 5-L-methyltetrahydrofolate ) or 5-L MTHF).
Adequate active folate is crucial during pregnancy and so it is important to work with a practitioner who understands the specific needs of people with MTHFR deficiency.
Untreated MTHFR deficiency in pregnancy leads to a higher risk of midline abnormalities in the baby and consequences including spina bifida, cleft lip, and cleft palate. MTHFR deficiency also increases the risk of repeat pregnancy loss. These issues can usually be prevented with adequate active folate and appropriate care for MTHFR.
Some research has shown that folic acid actually impairs the MTHFR enzyme further and so prenatal that include the active form of folate may be a better choice in this population.
Vaccines are an area of much concern for people with the MTHFR mutation for a number of reasons. One, is that with a compromise in MTHFR, it is much more difficult to detoxify heavy metals and many vaccines use heavy metals including aluminum and mercury. Also, vaccines have been controversially implicated in increasing risk of autism and spectrum disorders, and people with the MTHFR mutation have shown to be at greater risk for developing these issues.
Still, there is only one research study showing a correlation between MTHR and adverse vaccine reactions, and it is a study on the smallpox vaccine, which is not routinely given in the US. Largely, this type of research has not been conducted and so we can only hope that the gaps in our knowledge will be corrected. Even in the Vaccine Adverse Event Reporting Database there are limited entries that include MTHFR because the database relies on self-reported symptoms and information and most people with the MTHFR polymorphism are unaware that they have it.
Having the MTHFR mutation means that your capacity for detoxifying some substances, including heavy metals, hormones, and neurotransmitters, is reduced. It is important for people with MTHFR polymorphisms to detoixify, but difficult to use conventional “detox kits” or programs simply because some detoxification programs or products will push our bodies to release more toxins than we can actually eliminate and so do more harm than good.
Gentle detox strategies that focus on the physical elimination of toxins via the gut or skin will have better long-term effectiveness than more aggressive detox protocols that push the liver or enzyme systems to liberate toxins. These gentle detox strategies can include therapeutic sweating and sauna use, which encourages heavy metal release through the skin, the use of gut binders such as fiber, clay, or zeolites and topical castor oil.
Gentle detoxification strategies are a big part of the MTHFR lifestyle, and must be coupled with toxin avoidance to be effective. Working on eliminating common toxins in your home, food, and water is one of the best steps you can make in your health long-term.
Shockingly, the research indicates that between 48 – 67% of the population in the U.S. has some form of MTHFR polymorphism. MTHFR prevalence varies between ethnic groups as well. Americans of African descent have the lowest risk of having an MTHFR variant, while those of hispanic or italian heritage have the highest.
MTHFR makes it more difficult for your body to activate the vitamin folate and so it creates a higher than average need for folate. Activation becomes even more difficult with the synthetic form, folic acid. Because of this, it is important to emphasize foods that are high in natural folate, and avoid foods that are fortified with folic acid.
Foods fortified with folic acid include wheat products like pasta, bread, breakfast cereal and even baking flour. Also, manufacturers add folic acid into other foods like orange juice and protein bars to make them look more nutritious to customers. Foods fortified with folic acid should be avoided as much as possible.
Reduced MTHFR activity is another way of saying that you have a genetic variant in the MTHFR gene which makes it work less efficiently. This gene codes for the enzyme that converts folic acid and natural folate into the active form, 5-L-methylenetetrahydrofolate, or 5-L-MTHF for short. With reduced MTHFR activity it is more difficult to activate folate.
When the MTHFR enzyme works slowly or inefficiently, lots of processes get backed up like recycling homocysteine, making neurotransmitters, making glutathione – your master antioxidant, and making nitric oxide, which helps your blood vessels dilate. The most important thing that happens, however, is that methylation becomes difficult and you don’t methylate your DNA very effectively, which means that your body is less able to regulate bad or dangerous genes.
This is a crucial process and so optimizing your MTHFR gene will improve your health in a variety of ways. Many people who work with their MTHFR notice improvements in energy, mood, sleep quality, hormone balance, and laboratory markers like high homocysteine.
Like all genetic polymorphisms, MTHFR started as a simple spelling error in the genetic code of a newborn. This means as the genetic material was being copied from parents to child or even within the parents from a stem cell to the sperm or egg, one genetic letter was copied incorrectly. Genetic polymorphisms are part of human diversity and even though they are technically “mistakes” they are also how we evolve and grow as a species. Withought polymorphsims, humans could not change in significant ways.
The MTHFR polymorphism has become so widespread within the population because it confers several survival advantages, including some resistance to malaria, the largest killer of children globally, as well as more efficient processing of vitamin D.
The MTHFR C677T gene mutation is a simple spelling mistake in the methylenetetrahydrofolate reductase gene. This gene codes for an enzyme of the same name and the C677T variant means that at location 677 there is normally a cytosine, or C, in the wild-type genetics but this person has a thiamine, or T.
This polymorphism does change the shape of the MTHFR enzyme that converts inactive folate into the active form and so it makes the enzyme work less efficiently.
Some people have one altered copy of the C677T gene, which is called a heterozygous mutation. This affects the enzyme activity less than a homozygous mutation, which indicates two bad copies of the gene.
The best person to ask about supplements during pregnancy is your obstetrician, gynecologist, midwife, or whomever is supervising your pregnancy and delivery and their advice should supercede anything you read on the internet, here or otherwise. Baby aspirin at a dose of 81mg has been shown to be helpful for women with the MTHFR mutilation for preventing repeat pregnancy loss as well as decreasing the risk of preeclampsia.
The American College of Obstetricians and Gynecologists suggests that for preeclampsia, 81mg baby aspirin should be taken daily until delivery.
Research has shown that people with the C677T variant have a higher risk of developing low thyroid conditions (hypothyroid), but the reason is unknown. Some research theorizes that it is due to possible higher levels of homocysteine in the blood of people with the C677T variant.
There are around 15 known variants of the MTHFR gene, but only three have been shown in research to have any impact on health. Those are the MTHFR C677T variant, the MTHFR A1298C variant and the MTHFR G1793A variant. Of these three, the G1793A variant is the least well studied and C677T is the most well studied.
While genetic testing is the only way to be sure, it is possible to guess at your MTHFR status.
The easiest way is by looking at your own symptoms and also your family history. If you have a significant number of the following symptoms and traits in your family tree then it is reasonable to suspect MTHFR. There are also some personality traits that can indicate MTHFR polymorphisms.
Personal symptoms include: history of blood clots, anxiety, depression, repeat pregnancy loss without another known reason, midline abnormalities like hair lip, cleft palate, tongue tie, or lip tie, high homocysteine, ADHD, spectrum disorders, low sperm count, chronic fatigue
Family history includes: addictions, Alzheimer’s disease, colon cancer, hypothyroid, stroke, autism, ADHD, endometriosis, fibroids, breast cancer not related to BrCA genes,
Personality traits include: high ambition/overachiever, empathic activist, obsessive traits, addictive tendencies, in-the-flow artist, perfectionism, rheumination, high sensitivity,
Folic acid is the synthetic form of folate that is used in many supplements as well as food-enrichment programs globally. For people with the MTHFR gene it is the most difficult form of folate to process because it goes through a number of additional enzymes to be converted to the active form.
If you have a choice between folate deficiency and folic acid, then folic acid is better than deficiency. Taking the active form of folate, which is 5-LMTHF, is the best option with MTHFR because it is already active and does not need to go through the MTHFR enzyme. If you have a choice between folic acid and 5-LMTHF, then choose the 5-LMTHF.
Also, there is some research that indicates that folic acid at too high a dose actually makes MTHFR function worse and will induce an MTHFR deficiency even in people with normal genetics so always be careful about getting too much folic acid.
Eating foods high in natural folate, like beans, lentils, and avocados is actually great if you have MTHFR. Eating foods fortified with folic acid is the problem. In the U.S., foods enriched with folic acid include bread, breakfast cereal, pasta, pastries, and baking flour as well as some corn products like tortillas. Folic acid is the most difficult form of folate for your body to activate. Since people with the MTHFR mutation have more difficulty activating folate than average, it is important to eliminate folic acid and focus on getting good natural folate or taking the active form of folate, which is 5-LMTHF. The active form bypasses the MTHFR enzyme completely and so is the best option.
Also, there is some research that indicates that folic acid at too high a dose actually makes MTHFR function worse and will induce an MTHFR deficiency even in people with normal genetics so always be careful about getting too much folic acid.
Checking for MTHFR can be done through your doctor and will be covered by some insurance plans if it is ordered because of blood clots, high homocysteine that isn’t responding to treatment, or fertility issues.
You can also order testing yourself in a variety of ways. I feel the best value for money is by using a genetic analysis tool such as Ancestry.com (starting at $129) or 23andme.com (starting at $99). The genetic testing is comparable on both platforms and the least expensive test will still give you all of the raw genetic data, but access to fewer of their internal health or ancestry trait reports.
Once you get your genetic data from these services, it is possible to download the raw data file and upload it into a variety of different services to see your MTHFR as well as a variety of different other variants. My favorite of these for ease of understanding is the methylation panel from geneticgenie.org, for which they ask a small donation.
If you prefer to order a medical-style test yourself which has targeted genetic information, then I feel the best available is the strategene test. You can upload your raw data from 23andme or ancestry for $95.
The MTHFR mutation is extremely common and in the US it is estimated that more than 50% of the population has at least one compromised copy of the MTHFR gene. This varies by racial group, with Hispanics having the higest incidence and americans of african descent having the lowest.
High homocysteine generally indicates a deficiency in folate, B12, or both. The best policy to lower homocysteine is to make sure you’re taking a good multivitamin with all of the B vitamins in it plus an additional methylfolate (5-LMTHF) and an additional methylcobalamin
There is no one-size-fits-all with methylfolate because all of us have unique tolerances. Typically for depression I suggest taking the highest dose your body will tolerate without negative side effects, up to a maximum of 15 mg per day (which is the upper dose of prescription deplin.)
Side effects that can occur with too high a dose of methylfolate include jittery, anxious energy that can interfere with sleep. Also, in people who have severely low serotonin, methylfolate might make depression worse through the activation of a serotonin transporter (SERT). For these individuals, SAMe will be a better choice. Always with methylfolate start at a low dose to test your body’s tolerances and increase slowly.
MTHFR C677T can make losing weight more difficult because it has effects on blood sugar and metabolic syndrome, thyroid, toxins, and also estrogen levels. This means that to effectively lose weight you have to be working on a complete plan and not just cutting calories or boosting exercise.
It is extremely important to have your doctor test your thyroid to make sure that you are not struggling against weight gain caused by hypothyroidism. If your thyroid is normal, then it is important to eat a low glycemic index diet with moderate protein, heavy fruits and vegetables, high fiber, very low simple carbs (like sugar and starch), and moderate good fats. Also, to be working on regular gentle exercise, and also gentle detox activities such as regular sweating in a sauna, epsom salt baths, or castor oil packs. If you have a history of hormone imbalance (PMS, fibroids, heavy periods, endometriosis, PCOS, etc…) then it is absolutely vital that you also work on hormone balancing.
Overmethylation can mean different things to different people. Some people use it to mean acute overmethylation, which can happen when you take too high a dose of methylfolate, SAMe, or TMG and it produces symptoms. In this situation you can reduce the amount of methylation happening by taking 50 mg niacin (not a derivative of niacin). This will cause a flushing reaction, but will help to burn away excess methylgroups. Also, exercising or having a hot bath or sauna can be beneficial at this time.
Overmethylation can also refer to the MTHFR Basic State Overmethylators, which is one of the ways that MTHFR symptoms can manifest. This state is usually artistic or creative, extremely driven regarding things they’re interested in but not especially in areas that don’t appeal to them, typically have high empathy, high pain tolerance, and atypical allergies. This basic state generally tolerates methylfolate well and so should follow the To Health WItih THat plan for balancing methylation. This includes eliminating folic acid from diet and supplements, boosting foods high in natural folate, adding a good background of all the B vitamins, and also a methylfolate and some form of B12. Overmethylators generally tolerate methylfolate well.
Hypohomocysteinemia is something that is not frequently discussed in the medical community, but it can have negative health consequences. Homocysteine is the precursor for glutathione, your body’s master antioxidant, and also for alpha-ketobuterate, which is the root of the krebs cycle and the beginning of all of your cellular energy.
Very little research has been done on low homocysteine, but interestingly, 40% of people with unexplained peripheral neuropathy have low homocysteine, and the theory is that because of the low homocysteine, ther person is also experiencing low glutathione and so free radicals are more able to do nerve damage.
The terms “homozygous” and “heterozygous” refer to how many altered copies of any gene you have. Homozygous starts with the greek root homo- which means “same” so this indicates two of the altered copy (both copies are the same). If you were homozygous for C677T, it would mean you have two bad copies of C677T. Heterozygous starts with the Greek root hetero- which means “different. Heterozygous mutations have two different copies of the gene – one altered and one typical. So heterozygous A1298C means you have one altered copy and one normal copy of A1298C. There is also something called “compound heterozygous,” which means you have one altered copy of two different MTHFR genes. This typically refers to one variant copy of both C677T and A1298C.
Having an MTHFR mutation means that your body’s ability to convert other forms of folate into the active form, which is methylfolate, is impaired relative to normal. Taking methylfolate bypasses the MTHFR gene and can be a good solution, but it is not the only solution – there are options for people who don’t tolerate methylfolate as well. So, taking methylfolate will compensate for MTHFR and is a great solution if you tolerate it, but if you don’t tolerate methylfolate, there are other great options as well.
No. Because Dr. Amy is working as a health consultant and visits are conducted remotely, you can not claim your consultation on insurance.
Absolutely yes! Many companies are making supplements with methylfolate and methyl B12 available in both Canada and the U.S. Some great ones to watch for are Seeking Health, Thorne Research, Integrated Theraputics (or ITI), Pure Encapsulations, Smarty Pants, Jarrow, and others.
MTHFR is a genetic issue and so you will have it for the rest of your life. If you begin a supplement protocol, you will usually see improvements in mood and energy even within the first month, but those improvements will continue to increase over the first year to two years of your journey. For the best results, you will at least maintain baseline supplements and healthy lifestyle changes for the rest of your life but it will be totally worth it for the health benefits.
Folic acid, the synthetic form of folate, is not good for people with the MTHFR mutation. It is found most commonly in enriched flour, enriched corn flour, or enriched rice products. This includes bread, pasta, pastries, cookies, breakfast cereal, baking flour, tortillas, and enriched rice. Also, be sure to check your energy drinks, meal replacements, and protein powders because folic acid is often added to those products. Another strange one, is orange juice. IF it’s fresh squeezed then it’s high in natural folate, which is great for MTHFR, but if it’s processed then it likely has added folic acid.
If the nutritional lable says “folate” or “folic acid” anywhere, then it’s always folic acid because it is the form of folate that is shelf-stable.
In people with MTHFR, diet can suffice for some people if you work to eliminate folic acid and add food sources of 400 mcg of natural folate per day or 600 mcg if you regularly drink alcohol. Some people, however, still notice symptoms with this dose of natural folate and find that adding a methylfolate or folinic acid supplement helps to improve those symptoms. Also, if you are pregnant or nursing, a good prenatal vitamin with methylfolate is strongly recommended.
The best lifestyle for people with the MTHFR polymorphism, which I like to call the “MTHFR Lifestyle” is living mindful of your body. Moderate exercise and activity, good sleep, emphasis on hydration, low-tox lifestyle, and supporting your body’s detoxification processes with simple steps like sauna, epsom salts baths, and dry skin brushing.
MTHFR doesn’t cause a B12 deficiency, but some research indicates that having an MTHFR polymorphism is highly associated with B12 deficiency for unknown reasons. Both MTHFR and low B12 contribute to high homocysteine and so they are often examined together. In addition, having high folate levels can mask a B12 deficiency so B12 and folate of any form should generally be taken together.
Folic acid binds tightly to folate receptors and blocks natural forms of folate from entering.
1. With MTHFR, there is evidence that folic acid makes the problem worse.
2. Unmetabolized folic acid can build up in your blood as UMFA
3. Excessive folic acid intake has been linked to an increased risk of cancer
4. Excessive folic acid in pregnant mothers has been linked to health issues in the unborn babies.
MTHFR is not typically responsible for weight gain, but it can make weight loss more difficult because it impairs the detoxification process and toxins are often stored in your fat tissue. If your body is unable to detoxify and eliminate those toxins, it will only access fat tissue when absolutely necessary.
Yes – MTHFR is highly linked to anxiety, depression, and a variety of other mental illness. It affects the way neurotransmitters are formed and so can have very broad-reaching consequences. In good news, balancing your methylation can help to moderate anxiety.
MTHFR is linked to recurrent pregnancy loss, especially early-term miscarriages. It is thought to be in part due to functional folate deficiency, which can be helped by supplementing with the active form of folate, which is 5-LMTHF. It is also thought to have some links to microclotting and research has shown promise using baby aspirin or baby aspirin and heparin during early pregnancy.
MTHFR is linked with hair loss for a number of different reasons. The main reason is that MTHFR is responsible for activating folate and active folate is necessary for the growth and reproduction of cells. Hair growth requires cells to be able to rapidly divide and in a person with low active folate status, that is not possible. MTHFR is also linked with higher levels of inflammation and oxidative stress, both of which are problems for the health of your hair follicles.
MTHFR mutation has been linked to higher incidence of blood clotting and can be considered an independent risk factor, albeit a minor one, for blood clotting. It is more impactful in combination with high inflammation or other known clotting factors.
MTHFR C677T mutations have been linked in some research with a risk of epilepsy. This is emerging research and is in the early stages, so more information will develop in the next few years of research.
MTHFR has been linked with anemia because of its impact on nutritional metabolism. Particularly, the metabolism of folate, B12, and homocysteine.
If MTHFR testing was ordered by a specialist for reasons of blood clotting, repeat miscarriages, or hyperhomoceysteinemia then it is often covered by insurance. If it is ordered because of patient request or for other reasons then it is often not covered. Insurance plans are all different, so checking with your insurance provider is the best way to get accurate information.
Neural tube defects are a group of related birth defects in babies that involve the neural tube, which eventually grows into the baby’s brain and spinal cord. This type of defect forms extremely early in the pregnancy, often before the woman is aware that she is pregnant. Two common neural tube defects are spina bifida, which affects the spine, and anacephaly, which affects the brain. Neural tube defects usually occur because of a folate deficiency and are especially common in people with the MTHFR mutation. It is important for women with MTHFR to supplement the active form of folate if they are actively trying to get pregnant.
Folic acid is the synthetic form of the vitamin folate. Every human living needs folate – it is essential for cell division, healthy genetic material, and a host of other functions. The synthetic form, folic acid, is difficult to process for people with the MTHFR mutation so the active form, 5-LMTHF should be taken.
Folic acid is the synthetic form of the naturally occurring vitamin folate. It is a crystalline form and has to go through extra processes in order to become useable by the body. For people with the MTHFR polymorphism, there is some evidence that folic acid may actually make the functioning of the MTHFR enzyme worse.
Folic acid is the synthetic form of the vitamin folate. Unfortunately, natural folate is not shelf-stable so the only form that can be used in food fortification is folic acid. The terms “folic acid” and “folate” are considered legally interchangeable in the US and many other countries, but if the label includes either, it refers to folic acid. Folic acid is not a good form of folate for people with the MTHFR polymorphism.
Folic acid is not ideal for people with the MTHFR mutation. MTHFR is the enzyme that converts inactive forms of folate to the active form, which is 5-LMTHF. The best form of folate for MTHFR people to take is 5-L methyltetrahydrofolate (5-LMTHF). Folic acid is inhibitory to the MTHFR enzyme and may make MTHFR problems worse.