The MTHFR "Diagnosis" Explosion



Almost daily, someone tells me they have been “diagnosed with MTHFR", and in many cases has been advised to use protocols for those "with MTHFR". Beware - this is not a diagnosis. A diagnosis can only be made for an illness.  Having a single or double mutation of MTHFR is not an illness, rather it is the makeup of your genetic map, which you have had for your entire life.  A genetic map is not an indicator of  biochemical expression, and thus does not define nor predict disease. You may be experiencing new symptoms or you may have been symptomatic  for a very long time, but a medical “diagnosis” of "MTHFR" without full assessment and biochemical analysis of your body is faulty at best/irresponsible at worst. The most useful application of a genetic map is in alignment with a careful investigation of your epigenetic stressors and your biochemical expressions.

Unfortunately, the “diagnosis” has not only not led to the resolution of symptoms, but rather, in many cases, to worsening conditions. This is because many of the same symptoms felt by people with MTHFR (and other genetic factors) can be caused by many different conditions. The unfortunate reality is that people are then being “prescribed” supplements intended to correct an MTHFR defect. This practice can produce detrimental effects and also fail to locate serious environmental, dietary and hormonal stressors which may be root causes of the problem to begin with. Many people, for instance, are prescribed methylfolate as an answer to this faulty “diagnosis”, and subsequently have increases in anxiety & other mood disorders, heart palpitations, etc. Methylfolate supplementation, with or without an active MTHFR issue, can deplete methionine stores in the body as well as derail antioxidant activity and neurotransmitter balances. It can also increase histamine levels, contributing to a cascade of physical and emotional challenges.

Here is a list of common complaints with MTHFR defects:

  • lethargy/ chronic fatigue
  • brain fog
  • high blood pressure
  • fibromyalgia
  • IBS
  • migraines
  • dementia
  • neuropathy
  • miscarriage, infertility, still birth
  • diarrhea, nausea
  • insomnia
  • anxiety
  • addiction
  • psoriasis
  • hypothyroidism
  • cancers of the breast, ovaries, cervix, liver, pancreas, lung, stomach & colon

And here is a list of other conditions which can cause the exact same symptoms & complaints:

  • heavy metal toxicity, with or without methylation imbalance
  • hormone toxicity
  • chemical toxicity/sensitivity
  • adrenal stress/exhaustion
  • pyroluria aka pyrrole disorder
  • thyroid dysfunction
  • mental/emotional stress
  • pathogens including parasites, bacteria, fungi & amoeba
  • poor microbiome in the gut
  • excess environmental stress
  • insulin resistance
  • mold toxicity
  • Lyme disease
  • excess copper, low zinc & HCL

There are, in fact, many “two-pronged” cause categories for many of these common conditions (1). Full investigation of a person’s biochemistry and physical status is imperative in order to properly define and address the factors involved.   In many cases, we might discover that a person’s phase I and II methylation pathways are adequately balanced, but phase III is not – this is an evolutionary challenge for most of us currently, as our bodies were not built to handle the amount of toxins with which we are now faced.   In phase III detoxification, toxins which have been methylated (phases I and II) and have become water soluble are transported into or out of cells & shuttled for excretion. Unfortunately, in our current physiological evolution, the body often fails in this process allowing toxins to be reabsorbed back into the bile for another round of methylation instead of being excreted from the intestines. This overload on methylation cofactors can certainly leave a person depleted,  yet not officially “dysfunctional” due to a genetic weakness. Also possible in this scenario is a particularly close association of defects in the CYP1B1 genes which control the detoxification of xenobiotics and estrogens. With compromises in the action of the cytochrome P450 enzymes, failure to excrete xenobiotics and dangerous estrogens causes many symptoms similar to those felt by people suspecting MTHFR defects.

Certainly another great concern is the amount of mental/emotional stress that is experienced in our culture on a consistent basis. It is estimated that 1 in 5 adults in the US will experience a mental illness (defined even as simply as a period of anxiety or depression) over the course of a year (2). Stress stimulates methylation! Excess demand for the nutrients and cofactors of methylation sets up once again.  Reducing stress and quieting the autonomic nervous system will reduce demand.

By many accounts from practitioners who specialize in working with the challenges of MTHFR defects, the first line of action is to balance electrolytes. It is important for us to note that this is one of the major mechanisms addressed with Metabolic Typing® and proper metabolic assessment/nutrition. In every case of toxicity, pathogenic disturbance, glandular dysfunction, or genetic malfunction we have ever worked with, proper individualized nutrition has been key to a successful outcome, and can also prevent the need for some therapeutic applications otherwise typically made. This is due to the profound rebalancing of homeostatic mechanisms made possible by this nutritional practice. Additionally, the proper amount of protein in the diet (also determined by Metabolic Typing®) is an important component for being able to tolerate methylfolate if actually required.

In summary, before accepting an erroneous “diagnosis” of an MTHFR defect or any prescription of supplementation or medication, consider the following first:
1) WHAT is causing a possible switch to be flipped on with an otherwise non-expressive gene mutation? In a complicated medical world with severe time and financial restrictions, it is very important to be active in your own health investigation, ferreting out your specific internal and external stressors.

2) What areas need to be investigated in your body, including metabolic function, toxicity (hormonal, chemical, metal), pathogens such as bacteria, viruses & parasites, and mental/emotional overload? Do these investigations provide more clarity and more reliable definitions than a generalized MTHFR malfunction?

3) What is the absolute most intelligent approach to remove these stressors and re-establish homeostasis, utilizing maximum intuition with individualized nutrition and supplementation?



1) American Journal of Biochemistry & Biotechnology 2008

2) Any Mental Illness (AMI) Among Adults. (n.d.). Retrieved October 23, 2015, from

3) Detoxification Enzyme Systems, by DeAnn J. Liska, PhD (Altern Med Rev 1998;3(3):187-198)