MTHFR  is a gene found on chromosome #1.  The MTHFR gene produces an enzyme responsible for a multi-step process that converts the amino acid homocysteine to methionine. The body uses methionine to make proteins and other important compounds. Without it there is no ability to “methylate” or detox without body detox toxins build in the body and cause harm.

Importance of MTHFR

The MTHFR gene is responsible for making a functional MTHFR enzyme.

If the MTHFR gene is mutated, enzyme’s function is impaired

MTHFR enzyme must be perfect in order for it to function properly

Dysfunctional MTHFR enzyme may lead to health problems.

 Issues associated with MTHFR

  • Infertility

  • Preeclampsia

  • Thyroid Problems

  • Chronic Fatigue and other Fatigue type Illnesses

  • Drug Sensitivities


  • Eczema

  • Food Allergies and Celiac Disease

Common Mutations

MTHFR mutations are common. The mutations can be “heterozygous” meaning they occur only on one strand or “allele” of the chromosome, or they can be “homozygous”, occurring on both alleles. The frequency of a mutation is common, occurring in about 60% of the population. MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine).

High levels of homocysteine can be attributed to many conditions seen in pregnancy such as:

  • Decrease in vitamin B-12 levels. Higher incidence of anemia

  • Complications in Pregnancy Due To Neural Tube Defects, posterior Tongue tie, lip tie

  • Anencephaly

  • Other neural tube defects

  • Spina bifida

  • Autism

  • Rheumatoid Arthritis Flares

  • Down Syndrome

  • Blood Clots

  • Altered drug metabolism

  • Low vitamin d levels/ osteoporosis

  • Neuropsychiatric Disorders

  • Gestational Diabetes

  • Early Pregnancy Loss/ SAB (viable fetus)

  • Placental Abruption, Low Birth Weight

Many women anticipating pregnancy  are taught that taking an excess of water soluble vitamins isn’t a bad thing because they will just be excreted in the urine if they’re not needed. But in the case of folic acid in the body of a person who cannot process folic acid into usable folate, the folic acid ends up in the bloodstream where it clogs the receptor sites on cells where folate is needed.

When unusable folic acid is taking up the receptor sites where real folate is needed, a folate deficiency occurs and the following can happen:

  • Neural tube defects

  • Recurrent miscarriages

  • Midline defects including tongue tie

  • Neurological problems

  • Anxiety (many people don’t realize they have anxiety until starting folate and having it go way down)

  • Growth problems

  • Thyroid problems

  • Anemia

  • And more

    • this means even with no MTHFR mutation AND excessive folic acid intake these problems can occur

In addition, this excess folic acid has been linked to:

  • Breast cancer

  • Prostate cancer

  • Childhood respiratory problems

Consider Testing

Methylation is a crucial biochemical process that is essential for the normal function of most of our body’s systems. It helps repair our DNA on a daily basis and regulates homocysteine metabolism. In addition, methylation is needed for detoxification and keeps inflammation under control. When we are deficient in B vitamins methylation breaks down, and the results can be disastrous.

But pregnancy—or the possibility of pregnancy—isn’t the only time folate levels are important. Folate (along with vitamin B12 and zinc) are all critical to normal cell division and DNA repair, which means they’re all essential tools for anti aging and cancer prevention.

MTHFR mutation test commonly used detects the two relatively mutations in the MTHFR gene that are associated with elevated levels of homocysteine in the blood.  MTHFR test may sometimes be ordered along with other genetic clotting risk tests, such as Factor V Leiden or prothrombin 20210 mutation tests to help evaluate a person’s overall risk of developing inappropriate blood clots.

Pregnant women positive for MTHFR are more prone to blood clots, and excess homocysteine is a common side effect of MTHFR mutations. High homocysteine can also cause pre-eclampsia and miscarriage. MTHFR mutations must be identified and addressed in order to achieve optimal results. Untreated MTHFR also puts women at a higher risk of postpartum depression.

Trouble becoming or staying pregnant?

MTHFR has proven to be a common factor in both infertility and pregnancy loss. Unfortunately, many of these miscarriages are recurring and this can be due to other genetic factors influencing repeat pregnancy loss (RPL). It is important to test both the father and the mother in these cases.

Egg quality can also be an issue for women with MTHFR. MTHFR has an effect on fetal viability and can also be a contributing factor to stillbirth. All my patients with RPL, are tested for MTHFR and other genetic problems.

A father’s folate status and diet have been found to be important in preventing birth defects and other diseases in offspring. So be sure he’s methylating adequately and getting the proper nutrition prior to conception.

It is important to remember that MTHFR gene mutations are inherited. Therefore, depending on what mutations are present in the mother and father, the fetus is likely to inherit MTHFR in some form. The baby can inherit problems in its own DNA, which present symptoms, and can also suffer from the nutritional deficiencies of the mother that are caused by her gene mutations. The most common problem is the risk of neural tube defects because of the mother’s MTHFR challenges.

The effects of a MTHFR defect:

  • C677T – homozygous (2 copies) – approximately 70% loss of function

  • C677T – heterozygous (1 copy) – approximately 40% loss of function

  • C677T & A1298C – compound heterozygous (1 copy of each) – approximately 50% loss of function                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                             Plan from the beginning

  • Toss any fortified food in your house. Now!

  • Diligently watch labels of all supplements for folic acid and avoid.

  • Track your cycle with a fertility chart

  • Living a lifestyle that supports your own set of genetic and health needs

  • Keep a positive outlook, will give you the best chance possible to conceive and carry a healthy pregnancy.

  • Eat a well-balanced diet and stay well-hydrated.

  • Don’t use alcohol, drugs or tobacco and avoid secondhand smoke.

  • Avoid environmental pollutants and limit the amount of stress in your life

  • Toss any supplement containing folic acid.

  • Consider getting pre-pregnancy lab testing to find your MTHFR status

  • Learn more about supplementing with active folate

  • Clean up your diet and home

  • Enjoy the ride!!


Holding Tummy