MTHFR is not a diagnosis.

You get told by a doctor that you have the MTFHR mutation and to “treat” it, you are told to take an insanely high amount of methylfolate (normally 7-15mg). And sent on your way.

By now you have probably read about MTHFR. But in case you haven’t, here is a quick recap: MTHFR stands for Methylenetetrahydrofolate reductase. It is a key enzyme in the folate metabolism pathway. There are two polymorphisms in the MTHFR C677T and the MTHFR A1298C. These polymorphisms (changes or mutations) result in a reduced MTHFR enzyme activity to convert folate into the the final bio available form of methylfolate used in the methylation cycle.

 

We all are born with the MTHFR gene and the allele we inherit will either be normal functioning, heterozygous (when you carry one normal copy and one altered copy) or homozygous (when both copies have changed). The altered copy is what we refer to as a mutation. You can read more about the methylation process in my post here.

All to often, a person will get a genetic test for MTHFR and told that to “treat” it, you need to take methylfolate.

Firstly

Using the word “treat” implies that MTHFR is a condition or disease, whereas it is neither. It is simply a gene that could put you at risk for folate deficiency and higher homocysteine levels. It does not mean you WILL automatically have low folate, folate deficiency, high homocysteine or any combination of health issues associated with these gene.

 

 

Secondly

Prescribing someone methylfolate presents many dangers of which many physicians uneducated in nutrigenetics are unaware of (read my post on folate here). These dangers are multifaceted and involve:

  • the form and dosage of folate
  • other genetic variants
  • the person’s current health status
  • taking a high dose methylfolate can mask a B12 deficiency
  • It can also cause excess mania in those with bipolar disorder
  • Methylfolate can also interact with other medications.

 

Thirdly

To check the MTHFR risk, blood tests need to be conducted to ascertain whether the person needs to supplement or could perhaps first focus on improving their dietary intake of folate-rich foods, and also take into account if any lifestyle habits could be contributing to the hindrance of folate absorption such as smoking, excess caffeine and alcohol intake and sometimes, even the use of certain medications that can hinder Folate absorption.

 

Fourthly

Methyfolate can speed up the detoxification pathway, neurotransmitters, hormones and histamine, all of which can be problematic for certain individuals with sluggish detoxification, certain slow enzymes that already predispose them to higher baseline neurotransmitters like dopamine and serotonin, or poor histamine clearance.

 

Deciding on whether or not take methylfolate needs to come with understanding of all of the above. Working with me as trained nutrigenetic practitioner will give you the education you need to make an informed decision.

 

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References:

1.] Mohn ES, Kern HJ, Saltzman E, Mitmesser SH, McKay DL. Evidence of Drug-Nutrient Interactions with Chronic Use of Commonly Prescribed Medications: An Update. Pharmaceutics. 2018 Mar 20;10(1):36. doi: 10.3390/pharmaceutics10010036. PMID: 29558445; PMCID: PMC5874849.

5.] Greenberg JA, Bell SJ, Guan Y, Yu YH. Folic Acid supplementation and pregnancy: more than just neural tube defect prevention. Rev Obstet Gynecol. 2011 Summer;4(2):52-9. PMID: 22102928; PMCID: PMC3218540.

 

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