MTHFR is a gene that makes an enzyme called methylenetetrahydrofolate reductase. This enzyme is involved in what are called methylation reactions, which act like a switch turning things on and off in your body. These reactions are needed to process amino acids to make proteins, for RNA and DNA synthesis, detoxification, breaking down histamine, and much more.
This enzyme is necessary for chemical reactions that use vitamin B9, which is folate, or folic acid (the synthetic version of folate). It converts folic acid into a form that can be used by your body (methylfolate). Vitamins B12 and B6 are also important for methylation reactions, in particular converting homocysteine into methionine (something we want to have happen).
When MTHFR isn’t working, these reactions are interrupted and a wide range of problems can result, including those associated with a deficiency of these B vitamins.
If you have MTHFR and take supplements, it is important to avoid folic acid. You want to take the appropriate, activated forms of these B vitamins, and eat foods that naturally contain them.
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Folate is absolutely necessary for a healthy nervous system, normal growth and development (this is why women are instructed to take supplemental folic acid when of childbearing age, as the fetus needs it to grow and develop normally) and forming red blood cells. Symptoms of folate deficiency are many and can include:
Cracks in the corners of the mouth
Red, sore tongue
Lack of concentration
Numbness in legs
Difficulty in walking
Symptoms of folate deficiency are similar to B12 deficiency. In fact, treating folate deficiency alone can mask the symptoms of B12 deficiency. This is a serious problem because B12 deficiency can cause irreversible neurological and nerve damage. GET TESTED!
There are different forms of the MTHFR mutation, and depending on which you have it may cause more severe problems. Problems associated with MTHFR may include:
Elevated homocysteine (associated with an increased risk for heart disease)
Depression and anxiety
Chronic fatigue syndrome
Digestive problems like irritable bowel syndrome
Problems with fertility and pregnancy
What's the connection between MTHFR and skin?
Itchy skin is associated with histamine reactions. Histamine is released by cells in your immune system when there is a trigger. Histamine is responsible for allergy-like symptoms we get, and this is why anti-histamines are prescribed and work to keep allergy symptoms under control, including itching. This means that excess histamine can lead to uncontrollable allergy symptoms, including itching.
Histamine is broken down by methylation. If methylation isn’t working, you can have excess histamine, and symptoms associated with it (like itching). Histamine is made in the body naturally, and it’s also found in a variety of foods. When histamine coming in exceeds histamine going out, which is more common in those with MTHFR, symptoms can result and persist.
Folic acid increases histamine levels, and methylfolate degrades it. Deficiency of methylfolate leads to high levels of histamine, and those with MTHFR are very often deficient.
If you have symptoms like those mentioned and can’t seem to figure out why, getting checked for MTHFR is a good idea. You can also check your homocysteine levels, and there are indicators of B12 and B9 deficiency (or sufficiency) that can be found in a CBC (complete blood count).
It’s also important to work with a qualified health practitioner who can help guide you through necessary testing, diet, lifestyle and supplement interventions customized for your biochemistry. Diet plays a large role in managing the effects MTHFR can have on your body, beyond just B vitamins, and addressing these factors can put you back on track to better health.