MethylTetraHydroFolateReductase Deficiency

MTHFR

Help 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

SAMe

MTHFR polymorphisms

677 MTHFR 1995 Most studies refer only to this.

1298 MTHFR 2001 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

Glutathione

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

Methotrexate

Neuroleptics

Nitroglycerin

Nitrous Oxide

Oral antidiabetic drugs

Oral contraceptives

Sulphasalazine

Theophylline

Trimethoprim

Antipileptic drugs

Clioquinol

Cyclosporin

Diuretics

antihypertensives

Drugs increasing

gastric pH

Erytropoietin

Isoniazid

Levodopa

Lipid lowering drugs

Lithium

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

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

Patients at Risk for Low Folate Levels

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

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

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

40-44%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

Recommendations

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

RecommendationsCerefolin

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 mg daily 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 C 1,000 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 E 400 IU Daily Silymarin 150mg twice a day

(liver detoxification

Summary

Supplements are a trial and error Future: Metabalomics

metabolic testing that can account for genetic and environmental factors

MTHFR

An evolving scienceStill more questions than

answers

MTHFR

Questions?