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MethylTetraHydroFolate Reductase Deficiency MTHFR Help from the Human Genome project

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MethylTetraHydroFolateReductase DeficiencyMTHFRHelp from the Human Genome project

MTHFR Deficiency

  • I am not selling anything

  • This is to help you decide what might be useful for your situation

  • This is new enough in the research that most physicians are not aware of this information in the vast sea of information that is available


MTHFR polymorphisms

  • 677 MTHFR 1995

    • Most studies refer only to this.

  • 1298 MTHFR2001

  • 7 other common defects

  • 34 rare defects as of 2003

  • Other defects in the Methylation pathway have been identified

C677T Defect

  • Associated with Elevated Homocysteine

  • Increase in Heart Disease

  • Increased stroke

  • Increased DVT

  • Peripheral neuropathy

  • Placental vascular problems (stillbirth)

  • Preeclampsia, Neural tube, cleft lip,

A1298T Prominent features

  • Depression, Anxiety, IBS

  • Fibromyalgia

  • Chronic Fatigue

  • Migraines

  • Dementia

  • Nerve pain

  • Schizophrenia

  • Parkinson's

  • TetraHydroBiopterin BH4 problems

Compound Heterozygous

  • One 677 and one 1298 Gene

  • Symptoms of both defects

  • Symptoms more severe

  • Blood clots prevalent


  • Antioxidant

  • Clears heavy metal toxins

  • Is decreased in MTHFR

  • Low levels correlate with memory problems

Measures that improve symptoms

  • Dietary, vegetables, berries, fruits

    • Better if grown locally

  • Mathematics, Accounting

    • Engineers, creative people

  • Piano, Classical music

  • Exercise

  • Band (not rock band) participation (structured music)

Symptoms related to both677 and 1298

  • Don’t clear heavy metals well

  • Symptoms tend to worsen over time

  • Cancer risk increased

  • Renal failure

  • Addiction potential

    • Drugs, Videogames,Pornography

Aggravating Factors

  • Heavy Metal Load, (fish, water, Food)

    • Mercury, lead, aluminum containing shots,

  • Poor diet (Highly processed foods)

  • Medications (Glucophage, Levodopa)

  • Anesthesia (Nitrous Oxide)

  • Other enzyme defects (B6 conversion)

  • Other Diseases (diabetes, Lymphoma)

  • Leiden Factor V

Heavy Metal Symptoms

  • Social Deficits, Withdrawl

  • OCD, Depression, Bipolar, Suicide

  • Schizophrenia, Aggression, tantrums

  • Chronic Fatigue, Fibromyalgia

  • Poor concentration, Memory

  • Hearing loss, seizure, Stroke

  • Peripheral neuropathy, Paresthesia

Heavy Metal Symptoms (cont)

  • Nausea, Diarrhea, abdominal pain

  • Colon Cancer, Pancreatic cancer

  • Liver dysfunction, Kidney dysfunction

  • Hypertension, Tachycardia

  • Pulmonary fibrosis, asthma

  • Immune problems, Low WBC

  • Hair loss, Premature Graying, Rashes

  • Others….

Link with Autism, ASD

  • MTHFR 677 and 1298 in 98% of children with autism

  • Two hit model, Genetic Predisposition and heavy metal exposure

    • (CDC admits April 28,08 that Thymerisol aggravates autism)

    • Dietary protocol helps improve symptoms

Drugs that may increase homocysteine levels

  • Antipileptic drugs

  • Clioquinol

  • Cyclosporin

  • Diuretics

  • antihypertensives

  • Drugs increasing

  • gastric pH

  • Erytropoietin

  • Isoniazid

  • Levodopa

  • Lipid lowering drugs

  • Lithium

  • Methotrexate

  • Neuroleptics

  • Nitroglycerin

  • Nitrous Oxide

  • Oral antidiabetic drugs

  • Oral contraceptives

  • Sulphasalazine

  • Theophylline

  • Trimethoprim

Source: Homocysteine Related Vitamins and Neuropsychiatric Disorders, Christina Bolander-Gouaille, Teodoro Bottiglieri

A medical food for the dietary management of vitamin deficiency in pregnancy and the postnatal period.

Patients at Risk for Low Folate Levels

Source: Homocysteine Related Vitamins and Neuropsychiatric Disorders, Christina Bolander-Gouaille, Teodoro Bottiglieri

A medical food for the dietary management of vitamin deficiency in pregnancy and the postnatal period.

Science of L-methylfolate

Natural diet supplies L-methylfolate.

Synthetic folic acid must be converted to

L-methylfolate. The rate limiting step involves the MTHFR enzyme.

Science of L-methylfolate

Science of L-methylfolate

MTHFR polymorphism is common.

10-12% of general population cannot metabolize folic acid. [<30% enzyme activity]

40-44% of general population are limited in their ability to metabolize folic acid.

[<70% enzyme activity]

Positioning of Neevo

Néevo™is a medical food indicated for the distinct nutritional requirements of those women under a physicians treatment for vitamin deficiency throughout the pregnancy, postnatal and lactating periods. Neevo is specifically indicated for older OB patients associated with high risk pregnancies and those patients unable to fully metabolize folic acid.

Take one caplet daily

Current Neevo Messages

Positioned as better, natural folate

L-methylfolate is 7x more bioavailable than Folic Acid


  • Neevo for high risk Ob

    • Add omega 3(new one coming out)

    • Patients over age 35

    • High Risk Patients especially seizure disorders

    • Depression in pregnancy

    • Prior Miscarriage, Fetal loss, Preeclampsia

Recommendations Deplin

  • Additional treatment when antidepressant is not enough

  • May have a role in the initial treatment for mild-mod depression

  • Anxiety

  • Bipolar adjunctive treatment

  • Schizophrenia


  • Memory loss

  • Alzheimer's

  • Difficulty with concentrating

  • Neurological problems

  • Chronic Fatigue

  • Fibromyalgia

RecommendationsMeta NX

  • Peripheral neuropathy

  • Elevated Homocysteine

  • Chronic pain syndromes

  • Chronic Fatigue

  • Fibromyalgia

  • Addiction (early results show promise as an adjunctive treatment)

MTHFR polymorphismsWhat can I do If I think I have the problem?

  • Ask for testing (pro vs con)

  • Ask for a trial of the Vitamins

    • Take in the web site information

  • Use the Nutritional protocol for the Over the Counter nutrients

  • If you have this defect remove mercury filings

Treatment/Supplement Guidelines

  • Only add one supplement at a time

  • Drink/Cook with filtered Water

  • If mod/severe symptoms consider Heavy Metal testing (Urine is more accurate with MTHFR)

  • Supplements will be discussed in order of importance.

Supplement Options (use one)

  • Methyl Folate containing medication

    • NEEVO, Prenatal Vitamin

    • MetaNX, Active forms of B6, B9, B12

    • Deplin, for depression, Active forms of B9

    • Cerefolin, Memory, Methylfolate and NAC

    • L-Methylfolate (available from some on line Health food stores)

Supplement Options

  • Methyl B12

    • Not absorbed well even in Meta NX

    • Oral Dissolving tablets work well for most

      • Jarrow brand works well

    • Compounded Subcutaneous injections work very well but more expensive

    • Light and Temperature control very important with injections

    • Oral drops now available (Biogenesis) for children with symptoms

Supplement Options

  • Epsom Salt bath Soak feet or body with 1-2 cup of salts 2/3 times/week

    • – 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.

Supplement Options

  • N Acetyl Cysteine 600 mgdaily

    • This helps make glutathione which clears heavy metals, Seems to help with memory

  • Full Spectrum Minerals This is a mineral supplement with Amino Acid Chelate (AAC)

    • Daily. NOW brand has the AAC

Supplement Options (cont)

  • Vitamin C1,000 mg, 1-3 times a day

  • DMG-Dimethylglycine.200-250mg/day This adds methyl groups to the amino acid that your body uses in the methylation.

  • Zinc 20-40 mg/ day

    • Especially important in eye sensitivity which is common

Supplement Options (cont)

  • Omega 3 (Flax seed or Fish oil that has mercury removed)1-2 tablets per day. Helpful with Brain/Nerve Healing

    • Some of the fish oil tablets don’t have the mercury removed.

  • Vitamin E400 IU Daily

  • Silymarin 150mg twice a day (liver detoxification


  • Supplements are a trial and error

  • Future: Metabalomics

    • metabolic testing that can account for genetic and environmental factors


An evolving science

Still more questions than answers



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