MTHFRMTHFR – this tiny gene mutation that can be a contributory factor in a wide variety of mental and physical issues in the human body.  Many people seek my help when they find out they have this mutation because not many doctors even know about it yet.  Usually, doctors only test for it when a woman has multiple miscarriages as the C677T mutation can be linked to increased risk for recurrent pregnancy loss.  Even when they find out about it, doctors usually prescribe high dose folic acid which is the exact OPPOSITE of what you should do!  (I will explain further down the page)

Most people find out they have MTHFR because they have done their homework and asked their doctor to test them for it or have done a 23andme gene test.  Unfortunately, knowing you have it and knowing what to do about it are two very different things…

The many problems associated with the MTHFR Single Nucleotide Polymorphisms [SNPs] are all very real.  But, the MTHFR mutation is NOT the single cause of the various problems.  The MTHFR Gene Mutations work in conjunction with other genes and environmental factors to cause a myriad of problems. The various problems associated with the MTHFR mutation[s] are POLYGENIC [caused by several genes] and multifactorial [caused by several environmental and internal biochemical disturbances].

The body’s inability to produce enough L-methyl folate [5-MTHF] is connected to a wide array of problems. Problems that may be aggravated by or associated with the decreased effectiveness of the enzyme MTHFR and insufficient L-Methyl Folate [5-MTHF] include:


  • ADHD [Attention Deficit/Hyperactivity Disorder]
  • Alzheimer’s Disease/ dementia [short term memory problems]
  • Anxiety
  • Anemia [megaloblastic]…red blood cells are too large
  • Arterial thromboses [clot in an artery]
  • Atherosclerosis
  • Autism
  • Addictions: smoking, drugs, alcohol
  • Bipolar Disorder [significant ups and downs of mood and or agitation/aggression]
  • Blood clots …Pulmonary embolism and other blood clots
  • Breast cancer
  • CAD [Coronary Artery Disease]
  • Chemical Sensitivity
  • Chronic Fatigue Syndrome
  • CVA [Stroke]and MI [Myocardial Infarct/heart attack],Coronary Artery Disease [CAD]
  • Decreased executive function [frontal lobe]…trouble making appropriate decisions [Judgement]
  • Depression  and anxiety
  • Developmental delays  and learning disabilities
  • Down’s syndrome
  • DVTs [Deep Vein Thrombosis]…blood clot in a vein in the leg
  • Elevated Homocysteine [toxicity]
  • Fibromyalgia
  • Hyperhomocysteinemia
  • Lack of L-Methyl Folate
  • Infertility [Male & female]
  • Irritable Bowel Syndrome
  • Spontaneous frequent miscarriages
  • Parkinson’s disease
  • Pre-eclampsia  [HTN during pregnancy]
  • Obsessive Compulsive Disorder…a strong need to ritualize activity to feel comfortable
  • Schizophrenia [Paranoia or hearing voices or seeing things or thoughts of grandeur]
  • Methotrexate Toxicity
  • Midline defects…tongue tie, cleft lip and palate, sacral dimple, spina bifida
  • Migraines
  • Motor or gait dysfunctions [trouble with coordination and walking etc.]
  • Multiple Sclerosis
  • Neural Tube defects in off spring [spinal cord/spina bifida or Brain/Acephaly]
  • Neurologic dysfunction [brain development  problems such as Autism and integrative problems]
  • Nitrous Oxide Toxicity
  • Schizophrenia
  • Seizures
  • Stroke
  • Spina bifida


As you can see from the following diagram, MTHFR is right in the middle of some very important chemical cycles that actually form ‘the backbone of human physiology.”


methylation_ca presentation


Folate enters the cycle at the top in the middle of the graphic.  It says ‘folic acid’ as well because many people use these terms interchangeable which is a mistake.  Folic acid is a synthetic form of folate and should never be taken by people with MTHFR mutations.  Folate is a B vitamin found in plants and in o=der for it to be used in the human body, we need to mix it with an enzyme to convert it to the human form called 5 MTHF.  The MTHFR enzyme is made primarily by 2 MTHFR genes; 677/1298.  When you have mutations in the genes, you produce less enzyme and ultimately make less of the bioactive form 5 MTHF.  As a result, the cycles to the right and left slow down due to a reduced amount of active folate.

The logical approach would be to take supplemental 5MTHF to even out the levels.  Oh, if only it was that easy…  Remember, you have many mutations and depending on the ones you have, you may be highly sensitive to ‘methyl donors’ like 5MTHF, methylcobalomin, TMG, etc.  So it is up to us to create the right program of care for you to bring your body back in balance.  Your history, gut health, micronutrition, diet, stress levels, thyroid and adrenal function all play a role in formulating our strategy.

* Taking folic acid is a bad idea for people with MTHFR as it is poorly metabolized and it has been said to block receptor sites for the bioactive form – 5MTHF.