MTHFR Symptoms

NOTE: Over 50% of society has some form of the MTHFR gene mutation.

Do you have MTHFR gene mutation symptoms?

The symptoms of MTHFR are, to say the least very complicated. Because MTHFR gene mutations don’t just cause a problem with folate metabolism. But also this causes several major problems that all have their own set of symptoms.  Here we will look at each possibility and the symptoms. That you could experience with the MTHFR gene mutation.

MTHFR symptoms

The most obvious symptoms of MTHFR gene problems

Folate or folic acid deficiency is an obvious sign. But it doesn’t always appear as the first sign if you have the gene problem. Often these symptoms are missed early on allowing other bigger problems. To develop which we will explore on this page.

Folate or folic acid deficiency symptoms

Anemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, and poor memory. But lack of energy, poor appetite, stomach pains, and depression is also symptoms.

Now, it’s really important to understand at this point that when you have a folic acid or folate deficiency. It will have an effect on ALL of your vitamin B groups. Also for each person with the gene mutation. But also can appear differently depending on which gene mutation you have and how it affects you personally. Here are the more obvious symptoms of vitamin B group imbalances:

Bleeding or tender gums
Burning feet or tender heals
Burning or gritty eyes
Cracked lips
Dry skin
Dull or oily hair
Eczema or dermatitis
Exhaustion after light exercise
Eye pains

Flaky skin
Inability to exercise
Infrequent dream recall
Lack of energy
Muscle cramps
Muscle tremors
Oversensitive mouth to heat or cold
Poor concentration
Poor appetite
Pale skin
Poor hair condition

Poor memory
Prematurely greying hair
Prickly legs
Rapid heartbeat
Sensitivity to bright lights
Sore tongue
Split nails
Stomach pains
Teeth grinding
Tender muscles
Tender or sore muscles
Tingling hands
Water retention

MTHFR gene mutation symptoms continued…

Along with the B group vitamin symptoms. The MTHFR gene defect can also affect several other essential nutrients. All of which have their own set of symptoms these include:

Choline deficiency symptoms – Developmental abnormalities in newborn babies. High blood cholesterol and fat, fatty liver and nerve degeneration. Further symptoms are high blood pressure, atherosclerosis and senile dementia. Which reduced resistance to infection or lowered immunity.

Inositol deficiency symptoms – Irritability, insomnia, nervousness, hyper-excitability, reduction in nerve growth and regeneration. Low HDL level (increased risk of cardiovascular disease).

Amino Acids & MTHFR symptoms

Amino acids are the building blocks of life, they are essential to good health. Those who have the MTHFR gene have complex problems that cause amino acid imbalances. Here are just some of the main amino acids that are affected by the gene problem:

Methionine – This can be high or low in those with the genetic disorder. But it is one of the most important amino acids affected by the gene. This is because methionine is involved in methylation and maintaining the homocysteine cycle.  Symptoms of methionine imbalances can vary greatly. Some of the more concerning symptoms include cardiovascular disease. Heart attack, stroke, inability to detoxify, inability to process and or use other important amino acids. Also lowered immunity and chronic allergies.

Glycine deficiency symptoms – Low energy or fatigue, blood sugar imbalances, hypoglycemia, anemia, chronic fatigue syndrome, poor digestion, and seizures. Further manic bipolar depression, cancer, mental health disorders, uric acid toxicity, phenolic & benzoic acid toxicity.

Common conditions that result from MTHFR symptoms

  • Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
  • Autism
  • Cardiovascular disease: thromboembolism, atherosclerosis, and myocardial infarction
  • Colorectal neoplasias
  • Dementia and memory loss
  • Depression and Irritability
  • Elevated homocysteine
  • Hypertension
  • Increased breast cancer risk (women >55 years of age)
  • Infertility & miscarriage
  • Neural tube and other birth defects
  • Peripheral neuropathy
  • Reduced lean body mass and increased body fat
  • Schizophrenia
  • Stroke

Conditions related to MTHFR symptoms

There are many conditions related to the MTHFR gene mutations. This is because MTHFR genes alter an important process. The body needs to stay healthy which is called methylation.  Methylation is extremely important because it involves the homocysteine cycle which essentially helps us stay healthy. When this cycle is interrupted by the MTHFR gene mutation the symptoms or conditions. It can be put into two categories called over-methylation or under-methylation.  People with the genetic disorder can experience symptoms from one or even both, these include:

Undermethylation Symptoms


Addictive behavior

Allergic reactions



Alzheimer’s disease




Autoimmune disease

Bipolar disorder



Chronic degenerative diseases

Cardiovascular disease

Chronic fatigue

Cleft palate


Down’s syndrome



Poor detoxification




Joint stiffness, pain, swelling


Muscle pains

Low neurotransmitters

Obesity or weight gain

Obsessive-compulsive disease

Oppositional defiant disorder






Recurrent pregnancy loss, miscarriage

Thyroid dysfunction

Overmethylation Symptoms





Increase in anxiety

Joint pain

Muscle pain


Depression (Maybe suicidal)




Stomach pain





MTHFR symptoms & what to look for

Along with the symptoms above, there are several medical indicators that can indicate the possibility of having the MTHFR gene problem.  Here is a basic guide to look for clues based on common medical tests such as blood tests:

  • Do you have elevated red cell folate levels?
  • Is your serum B12 <500
  • Do you have chronic low white blood cell count (WCC), neutrophils, lymphocytes?
  • Do you have increased mean corpuscular volume (MCV) >90 (High red blood cell count)?
  • You have increased red blood cell distribution width (RDW) >13%?
  • Do you have low hemoglobin <140g/L for males or <135g/L for females?
  • You have elevated homocysteine levels?  Levels over 7-8 µmol/L are considered high?
  • Do you have vitamin B12 deficiency symptoms despite a normal serum B12 count? Such as poor hair condition, eczema or dermatitis, mouth oversensitive to heat or cold. Irritability, anxiety, and tension. Further lack of energy, constipation, tender or sore muscles, pale skin?  Homocysteine levels over 12 indicate a B12 deficiency.
  • Do you have increased creatinine kinase?

MTHFR Infertility & miscarriages

One of the other indicators of having the MTHFR gene mutation is the inability to fall pregnant. History of miscarriage or a family history of miscarriage.  Folate or folic acid plays a significant role in pregnancy and developmental problems. Often result from the MTHFR gene because of an inability to use folate.  If you have been trying to fall pregnant unsuccessfully. You have had one or more miscarriages or you have a family history of miscarriages, get yourself tested for MTHFR.

Mental Illness & MTHFR symptoms

People with the MTHFR gene mutation have a greater chance of becoming mentally ill. This is because the brain requires optimal functioning of folate. All vitamin B groups, amino acids, essential fatty acids, and proper methylation to function properly.  Those who experience any of the symptoms on this page related to mental health. They are strongly encouraged to test for the MTHFR gene mutation.

Depression, anxiety, mood swings, bipolar disorder, ADD, ADHD, and suicidal thoughts. Further the obsessive-compulsive disorder, oppositional defiant disorder, learning difficulties, addictive behavior, schizophrenia

Chances of having MTHFR

As mentioned above populations who have the MTHFR gene defect are over 50% generally. Some countries having higher rates than others which vary depending on ethnicity. However, is not a good measure. However due to the fact that many people have no idea where their genes come from originally.  If you can relate to any of the symptoms on this page you should get tested. So that you know one way or the other, this is very important in preventing serious disease.

Testing for MTHFR symptoms

If you can identify with any of the above symptoms. In fact, it is well worth your while getting tested. This can be done from your home. See how to test for MTHFR gene mutations here.

Did you have any questions about the symptoms of MTHFR?  Contact us here.