MTHFR Symptoms

MTHFR Symptoms

What are the MTHFR Symptoms?

NOTE: Over 50% of society has some form of the MTHFR mutation such as the two mthfr c677t and a1298c genes that have serious consequences for a persons health and wellness.

See also:

MTHFR Symptoms in adults here

MTHFR symptoms in babies and children here

MTHFR symptoms in women here

MTHFR symptoms in men here

Do you have MTHFR symptoms?

The symptoms of MTHFR mutations are, to say the least very complicated health effects. Because MTHFR variants 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.

What is MTHFR

There are many MTHFR gene variants with the main two mthfr being tested including the two common – one copy MTHFR C677T & one copy MTHFR A1298C. MTHFR stands for methylenetetrahydrofolate reductase. An mthfr gene variant is a gene that has a variation such has being heterozygous (one copy of a varied gene) or homozygous (2 copies of a varied gene). 5 MTHF is the supplemental version of activated folate which should only be used under strict supervision. Its also go to understand your mthfr mutation status in terms of what percentage they are active or not.

Medical treatment

It’s very important to understand that the right advice, diagnosis or treatment be used as your doctor may provide medical advice diagnosis, however this does not mean they understand the depth of the problem which is very common.

Your doctor may also prescribe one or 2 supplements/drugs which will miss 99% of the underlying problems. Genetic testing of an mthfr variant can be done by us using our genetic testing lab tests or we can establish deeper level problems associated with mthfr using your ancestry or 23andme raw data genetic testing which contain hundreds of genes. Contact us here for advice diagnosis or treatment.

One of the biggest complaints we hear is that their doctor didn’t really understand the problem and that they didn’t feel confident in their advice on the subject of MTHFR.

MTHFR self Diagnosis

The most obvious symptoms of MTHFR gene problems

Folate, folic acid and or methylenetetrahydrofolate reductase deficiency is an obvious sign. But it doesn’t always appear as the first sign if you have the mthfr mutation. Often these symptoms are missed early on allowing other bigger problems to develop that have higher health risks which may lead to some serious disease, will explore some of these on this page.

Some of the signs of a folate (vitamin b9) deficiency from methylenetetrahydrofolate reductase deficiency from mutations c677t and a1298c include but are not limited to anemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, blood clots, poor appetite, stomach pains, depression, neural tube defect infertility, blood cells that are odd shaped and misarrange. Further elevated homocysteine in their blood or imbalanced levels of homocysteine, elevated folate levels on a blood test can be the result of dysfunctional MTHFR genes which vary from person to person.

Folate or folic acid deficiency risk factors & symptoms

Understanding the depth of the problem

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 MTHFR mutation the symptoms can appear differently depending on which MTHFR mutation or gene mutation you have and how it affects you personally. Here are the more obvious symptoms of vitamin B group imbalances:

  • Acne
  • Anemia
  • Anxiety
  • Apathy
  • Autism
  • Bleeding or tender gums
  • Burning feet or tender heals
  • Burning or gritty eyes
  • Blood clots
  • blood or urine problems
  • Cataracts
  • Constipation
  • Cracked lips
  • Depression
  • Diarrhea
  • Dry skin
  • Dull or oily hair
  • Eczema or dermatitis
  • Exhaustion after light exercise
  • Eye pains
  • Flaky skin
  • Headaches
  • Homocysteine levels (high or low)
  • Imbalanced levels of homocysteine
  • homocystinuria due to poor methylation
  • homocystinuria due to methionine metabolism problems
  • Inability to exercise
  • Infrequent dream recall
  • Insomnia
  • Irritability
  • Lack of energy
  • Migraines
  • Muscle cramps
  • Muscle tremors
  • Nausea
  • Nervousness
  • Neural tube defect
  • 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
  • Tension
  • Tingling hands
  • Vomiting
  • Water retention

MTHFR gene mutation symptoms continued…

Along with the B vitamins or B group vitamin deficiency symptoms. The MTHFR mutation may be defective and 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. high blood pressure, atherosclerosis and senile dementia. This can also lead to reduced resistance to infection and 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 Acid, Homocysteine & Symptoms of MTHFR

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


This can be high or low in those with the genetic disorder. But it is one of the most important building blocks 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 aminos. 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.

MTHFR Conditions

Common health conditions that result from MTHFR

  • Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
  • Autism
  • Increased risk of blood clots
  • Cardiovascular disease or Coronary artery disease: thromboembolism, heart disease, atherosclerosis, and myocardial infarction
  • Colorectal neoplasias
  • Common MTHFR anxiety disorder
  • Dementia and memory loss
  • Depression Anxiety and or Irritability
  • Developmental delays
  • Elevated or low homocysteine levels
  • Hypertension
  • High homocysteine levels or low homocysteine levels
  • Increased breast cancer risk (women >55 years of age)
  • Infertility & miscarriage
  • Methylenetetrahydrofolate reductase deficiency
  • Neural tube defects and other birth defects
  • Peripheral neuropathy
  • Reduced lean body mass and increased body fat
  • Schizophrenia
  • Stroke
  • And hundreds more health issues

Conditions related to MTHFR variants

There are many health conditions related to the MTHFR gene variants. This is because MTHFR gene variants can alter many important process in the body. The body uses methylation to stay healthy.  Methylation is extremely important because it is involves in the homocysteine cycle which essentially helps us stay healthy. When this cycle is interrupted by MTHFR gene variants there can be many symptoms or conditions as a result including imbalances in levels of homocysteine including high homocysteine levels and or low homocysteine levels. Problems can occur that result into two categories, one is called over-methylation and the other is considered under-methylation.  People with the genetic disorder can experience symptoms from one or even both, these include:

Undermethylation Symptoms

  • Addictive behavior
  • Allergic reactions
  • Aging
  • Anorexia
  • Alzheimer’s disease
  • Anxiety
  • Asthma
  • Autism
  • Autoimmune disease
  • Bipolar disorder
  • Bulimia
  • Cancer
  • Chronic degenerative diseases
  • Cardiovascular disease
  • Chronic fatigue
  • Cleft palate
  • Diabetes
  • Down’s syndrome
  • Delusions
  • Depression
  • Poor detoxification
  • Fibromyalgia
  • Headaches
  • Infertility
  • Joint stiffness, pain, swelling
  • Insomnia
  • Muscle pains
  • Neural tube defects
  • Low neurotransmitters
  • Obesity or weight gain
  • Obsessive-compulsive disease
  • Oppositional defiant disorder
  • Pain
  • Phobias
  • PCOS
  • Psychosis
  • Schizophrenia
  • Recurrent pregnancy loss, miscarriage
  • Thyroid dysfunction

Over Methylation Symptoms

  • Headache
  • Migraine
  • Rashes
  • Irritability
  • Increase in anxiety
  • Joint pain
  • Muscle pain
  • Insomnia
  • Depression (Maybe suicidal)
  • Nausea
  • Seizures
  • Vomiting
  • Stomach pain
  • Sweating
  • Rash
  • Hypokalemia
  • Palpitations

MTHFR symptoms & what to look for

MTHFR Blood tests results

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

  • When you do a blood test to check, 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? High homocysteine levels or Homocysteine levels over 12 indicate a B12 deficiency.
  • Do you have increased creatinine kinase?

MTHFR Infertility & miscarriages

One of the other indicators of having one or more of the MTHFR gene mutations is the inability to fall pregnant, mthfr mutations are often a big part of having a history of miscarriage or a family history of miscarriage.

Folate or folic acid plays a significant role in pregnancy and developmental problems, for those that have active MTHFR variants will often have an inability to properly use folate, a mutation may lower the conversion of folate to “active” folate.  If you have been trying to fall pregnant unsuccessfully, if you have had one or more miscarriages or you have a history of miscarriages, get yourself tested for MTHFR.

Mental Illness & MTHFR gene variant

People with MTHFR mutations and or an 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 are strongly encouraged to test for the MTHFR gene mutation. Some of these symptoms include:

  • Depression
  • Anxiety
  • Mood swings
  • Bipolar disorder
  • ADD
  • common MTHFR A1298C mutations especially homozygous
  • ADHD
  • Suicidal thoughts
  • OCD
  • Obsessive-compulsive disorder
  • Oppositional defiant disorder
  • Learning difficulties
  • Addictive behavior
  • Schizophrenia
  • And other mental health problems

Chances of having MTHFR gene mutation

As mentioned above populations who have the MTHFR gene defect are over 50% generally. Some countries have higher rates than others which vary depending on ethnicity. 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 diseases.

MTHFR Symptoms can be treated, we help resolve complex health problems everyday consult with us now

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

I’m so happy I consulted with MTHFR gene health, this is life saving work that I could not find anywhere else.  Thank you.

D. Crawford – USA

This page is not designed to provide medical advice or diagnosis.