1. MethylTetraHydroFolate Reductase Deficiency MTHFR Help from the Human Genome project

2. 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

4. SAMe

5. MTHFR polymorphisms 677 MTHFR 1995 1298 MTHFR 2001
Most studies refer only to this.
1298 MTHFR
7 other common defects
34 rare defects as of 2003
Other defects in the Methylation pathway have been identified

6. 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,

7. A1298T Prominent features Depression, Anxiety, IBS Fibromyalgia
Chronic Fatigue
Migraines
Dementia
Nerve pain
Schizophrenia
Parkinson's
TetraHydroBiopterin BH4 problems

8. Compound Heterozygous
One 677 and one 1298 Gene
Symptoms of both defects
Symptoms more severe
Blood clots prevalent

9. Glutathione Antioxidant Clears heavy metal toxins
Is decreased in MTHFR
Low levels correlate with memory problems

10. 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)

11. 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

12. 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

13. 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

14. 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….

15. 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

16. 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.

17. 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.

18. 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

19. Science of L-methylfolate19

20. 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

21. 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

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

23. 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

24. 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

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

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

27. 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

28. 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.

29. 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)

30. 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

31. 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.

32. 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

33. Supplement Options (cont)
Vitamin C 1,000 mg, 1-3 times a day
DMG-Dimethylglycine mg/day This adds methyl groups to the amino acid that your body uses in the methylation.
Zinc mg/ day
Especially important in eye sensitivity which is common

34. 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

35. Summary Supplements are a trial and error Future: Metabalomics
metabolic testing that can account for genetic and environmental factors

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

37. MTHFR
Questions?