MethylTetraHydroFolate Reductase 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

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MTHFR polymorphisms 677 MTHFR 1995 1298 MTHFR 2001 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 both 677 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. 18

Science of L-methylfolate 19

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] 20

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 21

Current Neevo Messages Positioned as better, natural folate L-methylfolate is 7x more bioavailable than Folic Acid 22

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

Recommendations Cerefolin Memory loss Alzheimer's Difficulty with concentrating Neurological problems Chronic Fatigue Fibromyalgia

Recommendations Meta NX Peripheral neuropathy Elevated Homocysteine Chronic pain syndromes Chronic Fatigue Fibromyalgia Addiction (early results show promise as an adjunctive treatment)

MTHFR polymorphisms What 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

An evolving science Still more questions than answers MTHFR An evolving science Still more questions than answers

MTHFR Questions?