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.

If you’re experiencing any of the following symptoms, it may be worth exploring the possibility of having an MTHFR gene mutation:

• Fatigue or weakness

• Shortness of breath

• Muscle weakness

• Poor wound healing

• Seizures

• Delayed speech and language development

• Poor growth and development

• High levels of homocysteine in the blood

• Low levels of folate and other vitamins

Keep in mind that many people with MTHFR gene mutations do not exhibit any symptoms, and some may only experience mild symptoms. If you’re concerned about your health, it’s always best to consult with a healthcare professional.

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.

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays a crucial role in processing homocysteine, an amino acid in the blood. Mutations in the MTHFR gene can lead to elevated levels of homocysteine, which is associated with various health conditions. There are many MTHFR gene variants with the main two 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 as 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. It’s also good 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.

The MTHFR gene mutation test is significant in diagnosing potential genetic variations that may impact health, particularly relating to folate processing and homocysteine levels. 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.

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.

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.

The MTHFR gene provides instructions for creating the MTHFR protein, which is essential for producing folate, a vital B vitamin necessary for DNA synthesis and for breaking down homocysteine, an amino acid that can lead to health issues if present at high levels.

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:

• 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?

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:

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.