The human body is remarkable in its ability to maintain balance and function within its biochemistry of all the cellular processes occurring simultaneously. When we are healthy, this allows our tissues, organs and body to operate at peak performance as long as we get enough sleep, exercise and maintain proper nutrition. However, there are many imbalances within the metabolic processes of the body that can lead to inflammation and disease if they are not diagnosed and treated. These can be due to toxins in the environment like pesticides, chemicals and heavy metals; genetic deficiencies; or nutrient deficiencies or imbalances of the intestinal environment, called the microbiome. Fortunately, in the field of functional medicine, there have been many advances made in understanding the science of the body. Modern science allows detection of imbalances early on before they become a disease or before they cause a person to suffer with uncomfortable symptoms.

What is a Metabolic Disorder?

Metabolism is defined as the sum of the chemical reactions that take place within each cell of a living organism that provides energy for vital processes and synthesizing new organic material. Inherited metabolic disorders are referred to as inborn errors of metabolism. This occurs when a defective gene causes an enzyme deficiency. Metabolic diseases can also occur when the liver or pancreas are not functioning properly.

The principal classes of metabolic disorders are acid-base imbalances, metabolic brain diseases, calcium metabolism disorders, DNA repair deficiency disorders, glucose metabolism disorders, iron metabolism disorders, lipid metabolism disorders, mal-absorption syndromes, metabolic syndrome X, inborn error of metabolism, mitochondrial diseases and phosphorus metabolism disorders.

MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase. Mutations found are often called “polymorphisms” and affect genes referred to as MTHFR C677T and MTHFR A1298C. Mutations can occur on different locations of these genes and be inherited from only one or both parents. Having one mutated allele is associated with increased risk of certain health problems, but having two increases the risk much more.

A MTHFR mutation is an example of an inherited metabolic disorder, which causes a problem associated with poor methylation and enzyme production. MTHFR mutations affect every person differently, sometimes there are hardly any noticeable symptoms at all; at other times there may be serious, long-term health problems. Health conditions associated with MTHFR mutations include autism, ADHD, fertility problems, depression, heart problems, mood disorders and autoimmune disorders.

Although the exact prevalence rate is still debated, it’s believed that 30 to 50 percent of all people might carry a mutation in the MTHFR gene, which is inherited and passed down from parent to child. If we suspect we may carry the gene mutation or have any family history, it is helpful to ask a doctor to test for the MTHFR gene mutation through a blood test.

When we eat foods that contain folic acid (vitamin B9), MTHFR converts it into methylfolate, folate’s active form. Methylfolate is a key player in methylation, the process of adding a methyl group to a compound. Methylation is fundamental to the proper function of almost all of the body’s systems. It’s involved in repairing and regenerating our cells, tissues and DNA; regulating gene expression and protein function; synthesizing neurotransmitters that influence mood, sleep, behavior, cognition and memory; controlling homocysteine (an amino acid that can damage blood vessels); keeping inflammation in check; assisting our liver in processing fats; activating and regulating the immune system; and modifying toxins and heavy metals.

Recommendations for those with the MTHFR Genetic Mutation

Those with a MTHFR mutation are more likely to be low in folate and related vitamins, including vitamin B6 and vitamin B12. The B vitamins are easier to obtain from supplements, but food sources are always best. To get more B vitamins, focus on eating enough quality protein foods, organ meats, nuts, beans, nutritional yeast and raw/fermented dairy products.

Getting more folate is very different than taking folic acid supplements. Some research even suggests that people with MTHFR mutations might have a harder time converting folic acid into its useable form and actually experience worsened symptoms from taking supplements containing folic acid.

Adequate folate is especially important before and during pregnancy. The period three months before conception and during the first trimester of pregnancy, mothers who get enough folate lower their children’s risk for various health problems. Look for the bioavailable form of folate in supplements called l-methylfolate and consume plenty of foods with folate (beans and lentils, leafy green vegetables like raw spinach, asparagus, romaine, broccoli, avocado, and bright colored fruits like oranges and mangos).

Other factors can also make MTHFR mutation symptoms worse by further decreasing folate levels and raising homocysteine levels. These include eating a poor diet, leaky gut syndrome/poor absorption, malnutrition, gastrointestinal illness, high amounts of stress, alcohol and drug use, and toxin exposure.

Natural treatments and ways to manage MTHFR symptoms include improving gut health, getting more natural folate from our diet, increasing intake of vitamin B6 and B12, exercising, decreasing ingestion of inflammatory foods, and managing stress.  

David Johnston, DO, is a board-certified osteopathic physician in neuromusculoskeletal medicine and osteopathic manipulative medicine, and a Diplomate with the American Board of Integrative Holistic Medicine. He holds additional certifications in cranial osteopathy. He practices at the Osteopathic Wellness Center, located at 158 Danbury Rd, Ridgefield. Connect at 203-438-9915 or