What is MTHFR?
MTHFR is short for Methylenetetrahydrofolate Reductase. It’s an enzyme in the body required for a metabolic process called Methylation. Methylation converts dietary folate and folic acid (both are forms of vitamin B9) into its biologically active, usable form. Think of the MTHFR enzyme as an essential “ingredient” in the methylation recipe; without it our body cannot create the final product.
We are all born with the MTHFR gene, but for some it may carry a mutation. Genetic mutations are actually very common, and is the reason we all look and behave differently. Approximately 30-50% of us carry some type of “mutation” in the MTHFR gene, passed down from our parents.
Most people with an MTHFR mutation remain unaffected and do not experience any meaningful differences. However, in certain individuals this genetic mutation can limit the activity of your MTHFR enzymes by 30-70%.This can then affect the methylation cycle, and becomes VERY problematic.
Common symptoms we overlook that might suggest we carry the mutation
Acne
Anemia
Anxiety
Apathy
Bleeding or tender gums
Burning feet or tender heals
Burning or gritty eyes
Cataracts
Constipation
Cracked lips
Depression
Diarrhea
Dull or oily hair
Dry skin
Eczema or dermatitis
Exhaustion after light exercise
Eye pains
Flaky skin
Headaches
Inability to exercise
Infrequent dream recall
Insomnia
Lack of energy
Migraines
Miscarriage(s)
Muscle cramps
Muscle tremors
Nausea
Nervousness
Irritability
Oversensitive mouth to heat/cold
Pale skin
Poor appetite
Poor concentration
Poor hair condition
Poor memory
Prematurely greying hair
Prickly legs
Rapid heart beat
Sensitivity to bright lights
Sore tongue
Split nails
Stillborn births
Stomach pains
Teeth grinding
Tender or sore muscles
Tension
Tingling hands
Vomiting
Water retention
Common Conditions that result from MTHR Mutation Symptoms
- Alcohol withdrawal seizure (muscle tension after alcohol withdrawal)
- Autism
- Cardiovascular disease
- Thromboembolism
- Artherosclerosis
- Mycocardial infarction
- Colorectal neoplasias
- Dementia and memory loss
- Depression and Irritability
- Elevated homocysteine
- Hypertension
- Increased breast cancer risk (women >55 years of age)
- Infertility & miscarriage(s)
- Neural tube and other birth defects
- Peripheral neuropathy
- Reduced lean body mass and increased body fat
- Schizophrenia
- Stroke
Who Should Test?
- Individuals with a manifestation and/or family history of:
- Cardiovascular disease
- Hypertension, coronary artery disease, stroke
- Neurodegenerative disorders
- Poor drug clearance
- Polypharmacy
- Multiple chemical sensitivity (MCS)
- Chronic fatigue syndrome (CFS)
- Chronic metabolic disorders
- Metabolic syndrome
- Diabetes
- Kidney or liver disease
- Musculoskeletal disorders
- Autism spectrum disorder
- Depression/anxiety
- Insomnia
- ADD/ADHD
- Alzheimer’s Disease
What do I do if I suspect I have a mutation?
We recommend comprehensive testing for methylation and detoxification. The MethylDetox Profile gives more actionable information than MTHFR testing alone, giving you a more complete picture of your body’s methylation and detoxification cycle. The MethylDetox profile includes commentaries, detailing recommended nutrients based on your genetics.
Standard MTHFR genotyping only evaluates folic acid metabolism. Scientific research reveals that a variety of genes are involved in maintaining methionine/homocysteine balance. Genetic variations (SNPs) in these important genes influence your methylation potential. Individual methylation is monitored using homocysteine levels. Important SNPs are included to evaluate your ability to methylate neurotransmitters, DNA and toxins.
Call our office, 225-766-9788, to set up your appointment.