MTHFR Mutation And The Importance of Vitamin B12 Injections

mthfr mutation and b12


You may have recently discovered that you are a family member has an Methylenetetrahydrofolate reductase (or MTHFR for short) deficiency, but do not know exactly what this means. If you do not know what MTHFR is, or would like to learn more about MTHFR deficiency, then this article is for you. This article will discuss how MTHFR mutations negatively impact the methylation pathway and vitamin B12 levels and what you can do to have better health outcomes living with an MTHFR mutation.

What is MTHFR?

The MTHFR is a gene that provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This is an important enzyme of the folate pathway that maintains the methyl pool required for regulatory functions and conversion of a form of folate called 5,10-methylenetetrahydrofolate to a different form of folate called 5-methyltetrahydrofolate. 1 

This is the primary form of folate found in blood and is necessary for the multistep process that converts the amino acid homocysteine to methionine, an amino acid that our bodies use to make proteins.

What happens with MTHFR mutation?MTHFR mutation

The MTHFR gene that codes for this enzyme has the potential to mutate, which can either interfere with the enzyme’s ability to function normally or completely inactivate it.

A MTHFR mutation leads to a shortage of the active form of folate within the body and negatively impact the conversion of homocysteine to methionine. Low active folate levels can lead to a build of homocysteine and a lack of methionine in the body. If left untreated can lead to several health problems. 2 

Why Are Vitamin B12 Injections Important to MTHFR?

Folate and vitamin B12 are vital cofactors working with enzymes in the methylation cycle. The methylation cycles begin with folate. It is involved as 5-methyl tetrahydrofolate methionine in the methylation process where the methyl group is transferred to homocysteine to form methionine in the presence of methionine synthase enzyme.
When you have MTHFR gene mutations you lack the enzymes responsible for the conversion of folate that you eat into the active form 5-Methyltetrahydrofolate. If we can’t make 5-MTHF, we can’t turn homocysteine back into methionine, and homocysteine builds up in the blood.3 

Moreover, Methionine synthase is also known to be dependent on vitamin B12 availability. Deficiency of vitamin B12 can impair the remethylation of homocysteine in which homocysteine cannot be converted to the amino acid methionine thus accumulating cellular folate as 5-methyl THF. Therefore, if there is vitamin B12 deficiency, then most folate forms in the body are trappeD as 5-Methyl-tetrahydrofolate form causing homocysteine imbalances. This is because B12 is the most important nutrient for you to absorb folate. This process is termed as the methyl trap hypothesis.

Symptoms of Elevated Homocysteine Levels

MTHFR mutations and vitamin B12 deficiencies commonly work together to produce elevated homocysteine levels which can damage the nervous system, leading to cognitive impairment, and increased risk of Alzheimer’s Disease and dementia.

Elevated homocysteine levels are also associated with increased risk for cardiovascular issues such as strokes and heart attacks. Without adequate vitamin B12 levels a build of homocysteine begins occurring and can be made even worse in combination with harmful MTHFR mutations.

Symptoms of vitamin B12 deficiency include fatigue, irritability, anxiety, low energy, depression, forgetfulness, constipation, new food sensitivities, hot and cold flashes, sore muscles, pale skin, numbness, tingling, and dermatitis.4 

Overcome MTHFR Issues With Vitamin B12 Injections

People with MTHFR gene mutations do not need medical treatment but may also wish to take preventive measures to lower their homocysteine levels.

What’s the best way to overcome elevated homocysteine levels and B12 deficiency is to maximize your methylation by changing certain lifestyle choices which include smoking cessation, getting enough exercise, eating a healthy, balanced diet, and taking a vitamin B12 injections.

Determining the right Vitamin B12 Injections for MTHFR mutation

We will go over each form of vitamin B12 and tell you how to determine if it’s the right one for you.

1. Cyanocobalamin

Cyanocobalamin is a synthetic form of vitamin B12 that can be converted to the natural forms of methylcobalamin. It is a form that contains a cyanide molecule that requires the body to expend energy to remove it and convert it to something your body can use. Making it more difficult to breakdown for those living with MTHFR mutations.

b122. Hydroxocobalamin

Hydroxocobalamin is more bioavailable than cyanocobalamin and does not require extra reactions occurring in the liver before the body can use it. It is a precursor of methylcobalamin and adenosylcobalamin, which are the active forms of vitamin B12.

For this reason, hydroxocobalamin is recommended for people with MTHFR mutations. Hydroxocobalamin should be taken as a preventative measure against complications that arise from vitamin b12 deficiencies, high homocysteine levels, and methylation issues.5 

3. Methylcobalamin

Methylcobalamin is another form of vitamin B12 that does not require extra processing in the liver, making it a great alternative to taking cyanocobalamin.

The Methylcobalamin version of B12 helps reduce homocysteine concentration by converting homocysteine to methionine through a methylation process.6 

Buy Vitamin B12 Injections For Sale Online

Now that you already learned about how to best address MTHFR mutations and vitamin B12 deficiencies, the next best step is to fill out your Vitamin Intake Form or call us at 877.228.2158. An experienced patient care coordinator from The HCG Institute will discuss and help you choose the right vitamin B12 injections for sale online.


1.Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000;151(9):862-877. doi:10.1093/oxfordjournals.aje.a010290.

2. Froese DS, et al. Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Hum. Mutat. 2016;37:427–438. doi: 10.1002/humu.22970. [PubMed] [CrossRef] [Google Scholar]

3. Kennedy DO. B Vitamins and the Brain: Mechanisms, Dose and Efficacy–A Review. Nutrients. 2016;8(2):68. Published 2016 Jan 27. doi:10.3390/nu8020068

4. Moll S et al. (2015). “Homocysteine and MTHFR Mutations.” Circulation. 132(1):e6-9.

5. Andersson HShapira EBiochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC) 1998J Pediatr1998;132:121124.

6. Kamath A, Pemminati S. Methylcobalamin in Vitamin B12 Deficiency: To Give or not to Give?J Pharmacol Pharmacother. 2017;8(1):33-34. doi:10.4103/jpp.JPP_173_16