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MTHFR Resource Information

Summary of Dietary, Nutritional, and Medical Treatments for Autism Article from Arizona State University

Additional MTHFR materials:


MTHFR Handout materials:

New approach to medical problems from the Human Genome project
Goal of the project was to identify genetic disorders that cause disease and then treat the cause not just the symptoms.  MTHFR is the first one to have an FDA approved treatment.  There are two common variants that can be tested (677, 1298) but as many as 50+ variants.  If both genes are defective the pathway functions on about 10-15% at best.

FDA approved treatments are for:
Anxiety, Depression   Deplin
Memory Loss    Cerefolin
Diabetic neuropathy (nerve Pain) Meta NX
High Risk Pregnancy   Neevo, Neevo DHA, Prenate Elite, Thorne

Other symptoms that are treated by this pathway but don’t have FDA approval:
Elevated Homocysteine, fibromyalgia, chronic fatigue, Irritable Bowel, Migraines, Alzheimers, Chronic pain, Bipolar, Schizophrenia, Parkinson’s, as well as prevention of Congenital anomalies, Down’s Syndrome.  Without treatment people are more prone to viral infections because the Methylation process is critical in shutting off viral replication as well as retaining heavy metals and other environmental toxins. 

Who Benefits?
• 30% of the US population have both genes defective, 40% have one gene defective
• 100% are exposed to environmental toxins that affect this pathway (BPA)

Effects of low Methylfolate
• Low Serotonin, Dopamine, Norepinepherine
• Low Glutathione.  Needed for toxin removal and Memory
• Low Tetrahydrobiopterine.  Critical in nerve protection, neurotransmitters

Things that aggravate the genetic disorder
• Heavy Metal load (fish, water, food)  (mercury, lead, aluminum)
• Poor diet (highly processed foods)
• Medications (Glucophage, Birth Control, Levodopa)
• Anesthesia (Nitrous Oxide)
• Other enzyme defects (B6 conversion, Methionine synthase and reductase)
• Other diseases (Diabetes, Lymphoma)
• Leiden Factor V, Prothrombin 20210

• Dietary, vegetables, berries, fruits (better if fresh). Berries have the active form of folic acid already.
• Mathematics, Accounting, Piano, Classical music - Suppress the overactive areas of the Brain
• Exercise
Nutritional protocol for MTHFR
Revised 9/19/2011

The Human Genome project has developed a new approach to medical problems.  There are several of the B vitamins that require activation before they are useful to the body.  By taking the active forms of theses vitamins you are able to bypass metabolic glitches and compensate for genetic and environmental problems.  This protocol is designed to help treat these problems with nutritional therapy.  It is not designed to replace your medications, however you may be able to over time decrease the medications that you require to manage these problems.  The Supplements should be added one at a time rather than start them all at once.

METHYL FOLATE  (Prescription)
• Deplin 7.5, 15 mg a day.  Methylfolate tends to increase energy.  Take 7.5 mg at a time.  If taking 15 mg take ½ in the am and ½ at noon. Most widely used.
• MetaNX  1-2 tablets/day  Methylfolate (B9), Vit B6 (Pyridoxyl 5 Phosphate), Methyl B 12 Methylcobalamin.  This works well 6 months to 1 year.  In a small percent of the population the Vit B6 builds up and creates a tight band type headache.  Great for nerve and surgical wound healing.  
• CerefolinNAC.  One tablet a day.  This is for Methylfolate, Methyl B12 and N-acetyl cysteine that helps form Glutathione which is important in memory and clearing toxins.
• Neevo Prenatal, Prenate Elite, Thorne Prenatal These prenatals contain Methylfolate

• Methylfolate (MTHF).  1mg.  available at Malley’s Pharmacy, Prescription pharmacy  age 8-12, 1 tab, age 12+, 2 tabs  (7.5 tablets are equal to 1 Deplin)
• Methyl-Guard. Thorne Pharmacuticals Available at Malley’s Pharmacy, Prescription pharmacy  age 0-3, 1 capsule, age 3-5. 2 capsules, age 6-8. 3 capsules.  (6 tablets are approx equal to MetaNX)
• Solgar Metafolin 800mcg.  Available at Super Supplements
• You may require additional supplementation to support this pathway. 
• Options for Methyl B12:
• Methyl B-12 5000mcg. Oral dissolving tablets every day (usually 1 but up to 4x/day)
• Methyl B12 oral drops  This works well for infants and children.
• Methyl B-12 (15 or 25mg/ml.)  0.1-0.5ml sub-cutaneous injection every 1-3 days
o It can lower blood sugars at about 8 hours.  In diabetes, use daily.
o Your urine may be an orange-red about 4-6 hours after the shot.  That is your body clearing the excess.  I have found that some people that are very ill have not noticed this until several weeks into treatment.  The injection has to be compounded, needs a prescription and be refrigerated.  Regular compounding pharmacies do not have the special equipment to do this.  Some pharmacies that do:
o Malley’s Pharmacy 509-943-3030 (local)
o Hopewell Pharmacy NJ  800-792-6670. 
o Moses Lake, WA  Pharmacy  800-476-6505

Other supplements that seem to help with this particular metabolic pathway include:
• BH4 (tetrahydrobiopterin)  Available locally from Malley’s or by ordering from  Take .025 -.05 mg daily
• Fewer studies available but helps with ADD/ADHD and refractory (treatment-resistant) depression
• N Acetyl Cysteine  600 mg    Once a day
• This helps make glutathione which clears heavy metals, Helps with memory.
• Full Spectrum Minerals  Mineral supplement with Amino Acid Chelate (AAC)
o Take one a day.  NOW brand and others are available. 
• Vit B6 (Pyridoxyl 5 Phosphate or P5P),  25 mg  This is in Meta NX.  Can be added to Deplin
o This B vitamin can build up in some people and it causes a headache that feels like a tight band.
• Vitamin C 1,000-3000 mg  up to 3 times a day 
o This helps with regenerating glutathione as well as helping to have 2-5 BM/ day
• Epsom Salt bath Soak feet or body with ½ -1 cup of salts 2/3 times/week
o The magnesium absorbs directly.  It helps with improving the mineral balance.  It also adds the sulfate that is critical in clearing toxins. It is not well absorbed orally.
• DMG-Dimethylglycine. (another option in TMG) 100-250mg/day  Start with one a day.
o This adds methyl groups to the amino acid that your body uses in the methylation.
• Zinc   20 -50 mg/ day Especially important in eye sensitivity which is common.
• Omega 3 (Flax seed or Fish oil that has mercury removed) 1-2 tablets per day
o Some of the fish oil tablets don’t have the mercury removed.  Helpful with brain/nerve healing
• Vitamin E    400 IU  Once a day
• Silymarin (milk weed Thistle) 150 mg 1-2 tabs/day.  Boosts glutathione
• Glutathione SR (Thorne pharmaceuticals).  1-2 tablets/d  This may give symptoms as the toxins come out so it may be useful to do on a 3 days on, 4-11 days off.  Available at Malley’s Pharmacy.
• 5-9 serving’s of fruits and vegetables a day are key to getting many of the minor but essential nutrients.

Laboratory evaluation may be useful. 
This allows testing for the genetic predisposition and looks for toxicity in the B6.  It helps identify people who would benefit from long term therapy.
• MTHFR (Methytetrahydrofolate Reductase) This is an initial test for gene defect.
• Homocysteine This seems to be optimal if under 6.3.  Do baseline and follow if over 7.5.
• HbA1C.  This is an estimate of glucose intolerance.  If in the 5.5 to 8 range you can have more problems with dosing the Methyl B12 and it should be given every day.

MTHFR tests only two of the common genetic variants.  There are as many as 50+ variants to this gene alone.  You get one from each parent.  Possible combinations of these two are:
Normal/Normal Normal for the two common variants. 
Normal/ 677  More susceptible to environmental damage, depression
Normal/ 1298  More susceptible to environmental damage, depression
677/677  Much worse for the above problems plus heart disease
1298/1298  Similar to 677 but less heart disease and blood clots
677/1298  This variant is the worst for strokes/heart disease/ blood clots


This Kadlec Neurological Resource Center presentation
is co-sponsored with Malley's Pharmacy