L-5-methyltetrahydrofolate Reductase
(MTHFR) Polymorphism

L-5-methyltetrahydrofolate Reductase (MTHFR) is an enzyme that is part of the normal metabolism of neurotransmitter production, and also is a key step in controlling the level of homocysteine in the blood. Some people have a genetic mutation (polymorphism) of this enzyme, which may be associated with a number of problems [Nazki2014  🕮 ]:

• Elevated homocysteine levels, which is associated with:
  • Cardiovascular disease (an independent predictor that may be more important than cholesterol) [Boushey1995  🕮 ], [Ma2014  🕮 ], [Debreceni2014  🕮 ].
  • Stroke
  • Inflammatory diseases of the brain, including Alzheimer's Disease and Parkinson's Disease.
  • Fibromyalgia
  • Hearing loss
  • Macular degeneration
• Disruption of the production neurotransmitters, which can lead to many psychological disorders such as anxiety or depression.
• Birth defects, in particular spinal bifida
• Male infertility [Bezold2001  🕮 ]
• Miscarriage
• Irritable Bowel Disorder
• Macrocytic anemia
• Down's Syndrome
• Cancer
• Autoimmune diseases

The good news is that it is possible to test for this harmful genetic mutation, and to make adjustments to your diet that work around the problem.

Please see conventional, complementary, and alternative medical treatments for important background information regarding the different types of medical treatments discussed on this page. Naturopathic, Complementary, and Alternative treatments that may be considered include:

Folic acid (or folate) is a well known vitamin that is found in many foods and supplements. Vitamins are small molecules that the body needs for proper metabolism. In the case of folic acid (or folate), the body normally converts the folic acid into 5-Methylenetetrahydrofolate, which is an important agent in the body for the process called "methylation." If the enzyme MTHFR is mutated into a less active form, then the body will be deficient in 5-Methylenetetrahydrofolate even if dietary intake of folic acid or folate is normal (or even higher than normal).

MTHFR polymorphisms can be overcome by proper nutritional management [Zappacosta2013  🕮 ]. However, concern has been raised regarding the use of folic acid supplementation, and suggesting instead L-5-methyltetrahydrofolate [Patanwala2014  🕮 ], [Sweeney2007  🕮 ], [Venn2003  🕮 ]; [Prinz2009  🕮 ], [Scaglione2014  🕮 ]. Please contact a licensed health care provider such as Dr. Weyrich for proper guidance in order to avoid imbalances caused by inappropriate supplementation.