<img height="1" width="1" style="display:none" src="https://www.facebook.com/tr?id=854433617968739&amp;ev=PageView&amp;noscript=1">
  • "My weight was getting so out of control. I started their weigh loss diet program and lost 32 lbs! I have been able to reduce my blood pressure medicine, fit back in my clothes, have tons more energy... Now I am back to eating and my desire for foods has changes drastically. Saved my life!!!
    Pamela, Scottsdale Az
  • "Dr. Cline and Dr. Terranella have been amazing! For the first time we found doctors that actually listen. They care about how your feeling and try everything they can to get you back to a normal state. I am in love with these guys! If you want amazing care, see these guys."
    Jennifer F. ,Phoenix Az

Nutrigenomics: A Case Study on MTHFR

The ability of our bodies to manufacture and use different biochemicals have a direct effect on our health, how we thing, feel, sleep, recover from exercise, reaction to allergens and so much more. However there is a lot of variability from one person to the next. This is because we each have different DNA variations. That is to say that the basic human genome is the same but each person have unique variations in their genome that change specific health parameters. This is where the art and science of nutrigenomics comes in. As the following case study illastrates, using genetics we can deliver a more precise and successful treatment using nutrition.

The patient in this case study is a female in her mid-30s, who works as a nurse. Her initial complaint when she came to Southwest Integrative Medicine was fatigue, chronic infections, poor sleep, and generalized achiness (like fibromyalgia).

Recommended MTHFR treatment

When someone has fatigue there are always a few things that come to mind for the doctors at Southwest Integrative Medicine. Hormone imbalance and genetic polymorphism like MTHFR are always up there as possible causes, although we did not explore the genetics angle at first. Dr. Terranella recommended thyroid medication; however, the patient ignored his advice because, as she later reported, her body typically responds paradoxically to medications and she was afraid she would get worse instead of better.

This brings up a point about patients with chronic health issues and sensitivites to medications and supplements. Many times doctors have trouble dealing with patients like this because they quickly run out of treatment options for these patients leaving both the doctor and patient frustrated and unheard.  Dr Terranella's approach to this scenario left the patient with quite a different feeling.


Despite not taking the advice, she returned for a second consultation.

During her second visit, the patient revealed that she had been taking vitamin D on the of another doctor and felt that her symptoms actually caused by the vitamin D. While any vitamin, herb or medication has the potential to cause adverse and unpredictable reaction, this seemed odd and possibly related to a genetic issue the patient was having processing the vitamin D. Based on this and the consistent thread of similar symptoms (including: anxiety or depression, achy muscles, extreme fatigue and poor sleep patterns) in the patient’s family members, Dr Terranella recommended genetic testing.

Extreme fatigue and insomnia are paradoxical bodily responses, in that normally, the body would want to sleep in order to relieve fatigue. This is fairly common and often associated with adrenal fatigue but could also be connected with adrenal gland issues.

Dr. Terranella tested the patient for MTHFR (methylenetetrahydrofolate reductase), an enzyme that converts inactive folate to active folate. MTFHR is critical, as folate turns on numerous pathways within the body. The patient was deficient in this genetic enzyme, showing only about 60% of normal. This was an important finding but some people with this genetic defect can actually get worse with using folate. Dr. Terranella says It is important to, "know your patient and test for other problems down stream from folate metabolism.

Knowing this and how sensitive she was the initial treatment was to support her cell membrane function. He knew this treatment would not cause the patient’s condition to worsen, and he wanted to establish a trusting relationship in which the patient would follow his recommendation.


MTHFR Case Results

After a couple of weeks, the patient reported she surprisingly felt better. At this point Dr. Terranella added support for the deficient areas in the methylation cycle and recommended a follow up in 2 weeks. The next time they spoke with the patient reported feeling 70% better! This was a miracle for her and even though her symptoms were not entirely alleviated, they were finally manageable.

This represented an enormous leap forward for this woman’s health and ability to cope day in and day out. She stated that before coming to Southwest Integrative Medicine, she felt at rock bottom and that she would never get better. This paraphrased statement to Dr Terranella she says:

"I had accepted that I had some sort of condition that prevent me from living a normal life and accepted that I would have to live with what I was given and make the best of it.  I felt that my body was shutting down from sleep deprivation and whatever else was going on inside me even though I am fairly young.  Without your intervention and help, I don't believe I would have lasted much longer.
Because of you I am now sleeping for at least 6 hours a night uninterrupted.  I wake up feeling refreshed and not ready to cry because I have to fight another day. My body and joints are working again and I am almost pain free.  Thank you for helping me get my life back. I am slowly on my way to rebuilding my body, mind and spirit.”

The application of nutrigenomics has made all the difference for her and in her mind this is all possible because "she finally found a doctor that listened to her complaints and believed her."


MTHFR Case Prognosis

This patient’s nutrigenomics treatment will be ongoing but at Southwest Integrative Medicine, our goal is to teach people to know how to better take care of their bodies, mind, and spirit based on the testing and diagnosis they have. Genetic testing helps determine how much and how often certain vitamins and nutrients are needed, but it still isn’t “black and white.” For instance there are 12 known genes that code for MTHFR, creating a cascade of genes that code for this one enzyme. Some of these are more important than others having more impact on the enzyme but this is just one gene of thousands occurring in our body.

So it is important to note that every patient really is different and may respond to treatments accordingly. Using genetics, nutrition and a holistic approach enables doctors to understand each patient’s unique situation and prescribe the most appropriate, personalized medicine for them.

Schedule an appointment

Recent Posts

Width: 420px   Height: 622px
New Call-to-action
New Call-to-action
New Call-to-action
New Call-to-action
Digestive Reset
Don't B12 Deficient