MTHFR Deficiency: What Are the Symptoms and How Is It Treated?

The abbreviation MTHFR stands for methylenetetrahydrofolate reductase. It is a genetic mutation that could lead to low folate and high homocysteine levels in the body. If this is not averted or detected early on, those who suffer from it will endure a lot of hardships. It’s best to discover what MTHFR is and the available options when dealing with it. Keep reading to learn more about it.

MTHFR Mutation Tests

Many health organizations recommend that you avoid testing for variants if you do not have high homocysteine levels or other health problems. However, you may be curious about your MTHFR status. Speak with your doctor and insurance provider before making the decision. There are at-home genetic testing kits that may be good for MTHFR screening.

Source: Focus for Health

Variants of the Mutation

There are two variants of the MTHFR gene and you can have either one of them. Having one variant puts you at a minimal likelihood of having health problems. If, however, you have two forms of the mutation, you may have more serious health issues.

The A1298C is one of the variants. There is very little research about this and it does not affect many people. C677T is a more common variant. Up to 40% of Americans have a mutation of the gene at this position. The gene mutations are acquired from one’s parents. At the time of conception, you get one copy of the gene from each parent

The Symptoms of MTHFR Mutation

The symptoms of this genetic mutation may vary from one person to another. However, there are a few common symptoms. Some of them include:

Source: Biostrap

1. Multiple Miscarriages and Fertility Problems

Pregnancy is a complicated yet beautiful process. Because of its complicated nature, active folate is one of the most important needs for your baby. The sufficient production of active folate is critical for the success of any pregnancy. If you have MTHFR mutation, you may experience the following symptoms during pregnancy:

2. Cardiovascular Problems

MTHFR mutation can intensify your cardiovascular problems. It can increase your risk of getting

  • Heart attack
  • High blood pressure
  • Stroke
  • Deep vein thrombosis
Source: Patient Daily

3. Mental Health Issues

Mental health problems are mostly caused by hormonal imbalances and neurotransmitters. Lack of methylation may increase your risk of mental health problems significantly. Getting treatment for MTHFR gene may improve the symptoms of:

  • Anxiety
  • Bipolar
  • Depression
  • Brain fog
  • Migraines

4. Estrogen Dominance

Methylation has a significant role in regulating the hormones in your body. Issues with methylation may increase your risk of estrogen dominance. It can trigger the following symptoms:

  • Mood swings
  • Painful periods
  • Heavy periods
  • Tender and swollen breasts
  • Thyroid dysfunction
  • Fibroids
  • Endometriosis
  • Food cravings
Source: Healthdirect Australia

Other symptoms of MTHFR gene mutation include:

  • Dizziness
  • Low B12
  • Hives
  • Chronic inflammation
  • Asthma
  • Chronic fatigue
  • Eczema
  • Increased sensitivity to allergens
  • Reduced levels of white cells
  • Increased liver enzymes
  • Low immunity

Treating Related Health Problems

You do not always need treatment for an MTHFR variant. There are instances when you may only need a vitamin B supplement. Usually, you only need treatment when your homocysteine levels are very high. Your doctor has to rule out other potential causes of high homocysteine that may occur without MTHFR variants. Other potential causes of high homocysteine include:

  • Hypothyroidism
  • Obesity and insufficient activity
  • Some medications
  • High blood pressure, diabetes, and high cholesterol

After determining the cause of your problem, your doctor will administer the most appropriate treatment. Exceptions are made when you have been diagnosed with all of these conditions:

Source: CreakyJoints
  • Confirmed MTHFR mutation
  • High levels of homocysteine
  • Vitamin deficiencies in riboflavin, vitamin B-6, folate, Vitamin B-12, and folate

If you are diagnosed with all of them at the same time, your doctor is likely to suggest that you use supplements to address your deficiencies. They may also suggest medication for specific health problems. If you have MTHFR mutation, it is advisable to implement preventive measures that may reduce your homocysteine levels. The following preventive measures may help:

  • Eat a balanced and healthy diet every day
  • Quit smoking
  • Maintain a healthy weight
  • Exercise regularly

Medications That May Reduce Methylation

Certain medications may reduce your body’s ability to methylate. They may lower the folate and B12 levels in your body hence making your symptoms worse. Some of these medications include:

  • Theophylline
  • Antacids
  • Ethanol
  • Antimalarials
  • Nitrous oxide
  • Metformin
  • High doses of Niacin
  • Oral contraceptive pills
Source: Medium

Diet Changes to Manage Your Symptoms

Changes to your diet may ease your symptoms. Consuming foods that are rich in folate may improve your levels. However, it is often necessary to take supplements. Some of the best food choices include:

  • Vegetables like lettuce, spinach, broccoli, and Brussels sprouts
  • Peas, lentils, beans, and other cooked sources of protein
  • Sunflower seeds
  • bananas
  • Peanut butter
  • Juices from pineapples, strawberries, oranges, tomatoes, or grapefruit
  • Eat fermented foods like kombucha, kimchi, and kefir to maintain healthy levels of bacteria in your gut and promote digestion
  • Increase your intake of healthy fats

Avoid foods with synthetic forms of folic acid. Check the labels on your bread, pasta, cereals, and other commercially-produced flours. Many of them are enriched with the vitamin.

Limit your consumption of alcohol. It interferes with methylation and makes your symptoms worse. If you choose to drink, vodka and tequila are better options than beer and wine.



Since your body may be unable to convert folic acid into a usable form, you may need to take supplements. According to the experts at Methyl-Life, some of the most helpful supplements include Vitamin B6, Magnesium, and vitamin D. If you are pregnant, you should not change your prenatal vitamins solely because of your MTHFR status. Continue taking your regular dose of folic acid. If you have a history of neural tube defects, do not start taking any supplements before getting your doctor’s opinion. Moreover, if you are under medication, changing supplements or vitamins may interfere with your treatment and medication. The same can be said if you have underlying digestive problems, you need to treat them to improve methylation and restore your overall health.

If you suspect that you may have an MTHFR gene mutation, consider getting a genetic test. Other tests that may confirm the mutation include hormone level testing and homocysteine levels testing. Lifestyle and diet changes may help you ease the symptoms of MTHFR gene mutation.

Finding out that you have MTHFR deficiency should not be a signal for you to be discouraged. It should be the means to drive you to defeat this challenge. With these tips and information on how to detect it, you have a better chance of defeating this said deficiency.

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