MTHFR- What You Need To Know

Methylation deficiencies and a defect in MTHFR are linked to many conditions/symptoms, including:


Frequent miscarriages


Hashimoto’s or Hypothyroidism

Delayed Speech


Bipolar or manic depression

Heart disease


Chronic Fatigue Syndrome


Autoimmune Conditions


MTHFR (methylenetetrahydrafolate-reductase) is a much needed enzyme in the body. It’s required for processing methylation and converting folic acid/folate in to an active form that the body can use. MTHFR is needed for many functions of the body including: repairing DNA, switching genes off and on, processing chemicals, hormones, building the immune system, producing energy and maintaining cells.

Not to be confused with the enzyme, the MTHFR gene provides the instructions for making that MTHFR enzyme—therefore, “triggering” the production of the enzyme. A mutation in the MTHFR gene may therefore affect enzyme function.
MTHFR gene mutations are thought to affect up to about 60% of the population.

Researchers suspect there may be at least 30 different types of this gene mutation with C677T and A1298C being the most studied and tested of these mutations. {This number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP (pronounced “snip”).}

Having a gene with a mutation does not mean that the gene is defective or nonfunctioning, only that it is working with an altered efficiency.

Although mutations can occur at any time during our lifetime, it is most likely that we are born with these mutations and will have them throughout our life.

This may provide an explanation as to why certain traits or diseases "run in the family".

Although we cannot change our genetic code, we can change how our genes are expressed.

Research has determined that our gene expression is not only distinguished by hereditary factors, but it is also influenced by our diet, nutritional status, toxic load and environmental influences or stressors. This phenomenon has been termed "epigenetics".

MTHFR dramatically affects Homocysteine- an amino acid linked to a wide range of health problems, and is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease. It is naturally formed in the body, but gets broken down by L-methylfolate (active folate). Due to MTHFR restricting active folate, homocysteine is significantly affected by this gene mutation.

MTHFR mutations don’t directly make you unwell.

Rather, they may cause an exaggerated response to poor diet or environmental factors that others can “get away with”.

If you lack vitamins and minerals as result of a poor diet, digestion or absorption, it limits the body’s ability to have proper methylation.


Because these nutrients are needed to help make the most active form of folate in your body known as methylfolate. There are several of the B vitamins that require activation before they are useful to the body.

This is why dietary considerations are so important for certain MTHFR mutations.

For instance, when people with an MTHFR genetic mutation are exposed to certain environmental factors (chemicals, food, poor air quality, vaccines, medications, etc), they have a harder time getting rid of them, which can cause immune dysfunction leading to many chronic conditions.

One of the ways the MTHFR gene mutation can make you susceptible to certain conditions is by lowering the body’s ability to make glutathione. People with MTHFR irregularities typically have low glutathione, which makes them more susceptible to stress and less tolerant to toxic exposures.

As the saying goes, “Genes load the gun, environment pulls the trigger.”




Shawna Kunselman, MSACN



Bjelland I, Tell GS, Vollset SE, Refsum H, Ueland PM. Folate, vitamin
B12, homocysteine, and the MTHFR 677CT polymorphism in anxiety
and depression: the Hordaland Homocysteine Study, Arch Gen Psychiatry, 2003;60:618-626

Boris, M., MD,, Association of MTHFR Gene Variants with Autism, Journal of American Physicians and Surgeons Volume 9 Number 4 Winter 2004

Rosenblatt D. Methylenetetrahydrofolate reductase., Clinic of Investigative Medicine 2001;24:56-59

What about Medications for Autism & ADHD?

Aren’t they effective and helpful?


For this article I want to focus on medication for ADHD. Ritalin and Adderall are the two most common medications prescribed for ADHD. While they may be effective at controlling unwarranted behaviors and improving concentration, there are many side effects that come along with it. Now, I am not saying there is never a time and a place for these medications. I just want people to be aware of the side effects and know that in many times, there are other options. Here, I want to focus on Ritalin (methylphenidate).


Introduction of Ritalin:

  • One of the most common central nervous system stimulants prescribed in children over age of 6
  • Schedule II Narcotic
    • Same classification as morphine, methamphetamines and codeine
      • High potential for abuse
      • S. Drug Enforcement Administration (DEA) reports that studies show that Ritalin is more potent than cocaine and effects the brain in the same way as cocaine does
    • Stimulants are most common treatment of ADHD and are also being used as a treatment for narcolepsy
    • According to the National Center for Health Statistics Data Brief no. 42, from 2007 – 2008, “The most commonly used types of prescription drugs in the United States by age were: ….central nervous system stimulants for adolescents aged 12–19.”
    • The prevalence of children 4-17 years of age taking ADHD medication increased from 4.8% in 2007 to 6.1% in 2011
    • More than 17 million children worldwide prescribed psychiatric medicines


How does Ritalin work?

  • Ritalin increases dopamine levels in the brain
  • Dopamine is a neurotransmitter which plays a critical role in moods, behaviors and motivation
  • Ritalin blocks a protein responsible for transporting dopamine
  • Affects chemicals and nerves which contribute to hyperactivity and impulse control
  • “Methylphenidate blocks dopamine uptake in central adrenergic neurons by blocking dopamine transport or carrier proteins. Methylphenidate acts at the brain stem arousal system and the cerebral cortex and causes increased sympathomimetic activity in the central nervous system. Alteration of serotonergic pathways via changes in dopamine transport may result.”
  • It is believed that those with ADHD may have more of these dopamine transporters than others.


Warnings and Adverse Reactions:

  • Can cause “sudden death” in susceptible individuals
    • Typically has been seen due to cardiovascular effects
  • Can lead to dependency and addiction
    • As a result of dopamine mechanisms
    • May cause visual hallucinations, suicidal thoughts and psychotic behaviors
      • Also due to the effects on dopamine


Ritalin as a Recreational Drug:

  • DEA has received reports of college students using Ritalin to help them study for all-night study sessions
  • Many also admittedly use Ritalin as a “party drug”
  • One survey of students at a public liberal arts college found that “over 50% of survey participants knew other students who had used Ritalin for fun, 16% had used it themselves, and nearly 13% reported their own use included snorting the drug.”
  • Chronic heavy use can lead to physical dependence-- withdrawal symptoms include exhaustion and severe emotional depression
  • Ritalin’s dependence can cause cravings for the drug and panic if it becomes unavailable


Nutrients Depleted from Ritalin use and Symptoms Associated:




  • “Some children are at risk of serious growth decrement when treated with MPH” (methylphenidate/Ritalin)
  • Nutrient intake and growth of children taking methylphenidate should be monitored very closely
  • Calcium/Magnesium ratio significantly lower after 3 weeks of treatment with methylphenidate
  • “the decrease in the ratio may be relevant to side effects and treatment resistance associated with stimulant use.”
  • Significantly depletes dopamine and causes cell death in olfactory bulb
    • Olfactory bulb is part of the limbic system and is involved in motivation, emotions and memory
    • May be related to the depressive symptoms associated with amphetamine withdrawal


Caffeine can enhance side effects of Ritalin so it is recommended to limit caffeine to small quantities

Alcohol should be avoided as it may increase nervous system side effects such as drowsiness, anxiety, depression, and seizures

  • When Alcohol is combined with methylphenidate, a metabolite known as ethylphenidate is produced, which can be fatal in some individuals.


There are many natural alternatives to treating ADHD which also improve optimal health status. Looking for specific food intolerance’s and micronutrient deficiencies is especially helpful. Other improvements can be seen with:

Studies have shown significant reduction in ADHD symptoms and overall health by optimizing diet and lifestyle.






, Facts and Statistics on Amphetamine Abuse, Accessed December 2, 2015
 Drug Enforcement Agency (DEA), Accessed December 2, 2015
 Drug-Induced Nutrient Depletion Handbook, by Ross Pelton, R.PH., PH.D; James B. LaValle, R.Ph., N.D.; and Ernest B. Hawkins, R.Ph., M.S. (Lexi-Comp, 2001]
Atianjoh, Fidelis E. et al. 'Amphetamine Causes Dopamine Depletion And Cell Death In The Mouse Olfactory Bulb'. European Journal of Pharmacology 589.1-3 (2008): 94-97. Web. 2 Dec. 2015.
Schmidt, ME.,, Effect of dextroamphetamine and methylphenidate on calcium and magnesium concentration in hyperactive boys., Psychiatry Res. 1994 Nov;54(2):199-210
Garfinkel BD, et al. 'Individual Responses To Methylphenidate And Caffeine In Children With Minimal Brain Dysfunction, Canadian Medical Assoc Journal. - Pubmed - NCBI'. N.p., 2015. Web. 3 Dec. 2015.
Krueger J, et al. 'First Detection Of Ethylphenidate In Human Fatalities After Ethylphenidate Intake., Forensic Science Int. - Pubmed - NCBI'. N.p., 2015. Web. 3 Dec. 2015.
Zhu, Hao-Jie, Kennerly S. Patrick, and John S. Markowitz. 'Enantiospecific Determination Of Dl-Methylphenidate And Dl-Ethylphenidate In Plasma By Liquid Chromatography–Tandem Mass Spectrometry: Application To Human Ethanol Interactions'. Journal of Chromatography B 879.11-12 (2011): 783-788. Web. 3 Dec. 2015.
Dolina, S. et al. 'Attention-Deficit Hyperactivity Disorder (ADHD) As A Pyridoxine-Dependent Condition: Urinary Diagnostic Biomarkers'. Medical Hypotheses 82.1 (2014): 111-116. Web. 2 Dec. 2015.
B L Hungund, B G Winsberg. 'Pharmacokinetics Of Methylphenidate In Hyperkinetic Children.'. British Journal of Clinical Pharmacology 8.6 (1979): 571. Web. 2 Dec. 2015.
DrugBank, Methylphenidate,
Neuropsychopharmacology, ADHD and attention networks, (Image),
Center for Substance Abuse Research, Ritalin, Accessed December 2, 2015
Holtkamp, K.,, Methylphenidate-related growth impairment, J Child Adolesc Psychopharmacol. 2002 Spring;12(1):55-61.
Schmidt, ME.,, Effect of dextroamphetamine and methylphenidate on calcium and magnesium concentration in hyperactive boys., Psychiatry Res. 1994 Nov;54(2):199-210
Atianjoh, Fidelis E. et al. 'Amphetamine Causes Dopamine Depletion And Cell Death In The Mouse Olfactory Bulb'. European Journal of Pharmacology 589.1-3 (2008): 94-97. Web. 2 Dec. 2015.


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