Transcript Slide 1

MethylTetraHydroFolate
Reductase Deficiency
MTHFR
Help from the
Human Genome project
MTHFR Deficiency
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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
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677 MTHFR
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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
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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
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Depression, Anxiety, IBS
Fibromyalgia
Chronic Fatigue
Migraines
Dementia
Nerve pain
Schizophrenia
Parkinson's
TetraHydroBiopterin BH4 problems
Compound Heterozygous
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One 677 and one 1298 Gene
Symptoms of both defects
Symptoms more severe
Blood clots prevalent
Glutathione
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Antioxidant
Clears heavy metal toxins
Is decreased in MTHFR
Low levels correlate with memory
problems
Measures that improve symptoms
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Dietary, vegetables, berries, fruits
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Mathematics, Accounting
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Better if grown locally
Engineers, creative people
Piano, Classical music
Exercise
Band (not rock band) participation
(structured music)
Symptoms related to both
677 and 1298
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Don’t clear heavy metals well
Symptoms tend to worsen over time
Cancer risk increased
Renal failure
Addiction potential
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Drugs, Videogames,Pornography
Aggravating Factors
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Heavy Metal Load, (fish, water, Food)
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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
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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)
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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
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MTHFR 677 and 1298 in 98% of
children with autism
Two hit model, Genetic Predisposition
and heavy metal exposure
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(CDC admits April 28,08 that Thymerisol
aggravates autism)
Dietary protocol helps improve symptoms
Drugs that may increase homocysteine levels
Antipileptic drugs
Methotrexate
Clioquinol
Neuroleptics
Cyclosporin
Nitroglycerin
Diuretics
Nitrous Oxide
antihypertensives
Oral antidiabetic drugs
Drugs increasing
Oral contraceptives
gastric pH
Sulphasalazine
Erytropoietin
Theophylline
Isoniazid
Trimethoprim
Levodopa
Lipid lowering drugs
Lithium
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
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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
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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
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Positioned as better, natural folate
L-methylfolate is 7x more bioavailable than Folic Acid
Recommendations
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Neevo for high risk Ob
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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
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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
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Memory loss
Alzheimer's
Difficulty with concentrating
Neurological problems
Chronic Fatigue
Fibromyalgia
Recommendations
Meta NX
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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?
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Ask for testing (pro vs con)
Ask for a trial of the Vitamins
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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
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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)
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Methyl Folate containing medication
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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
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Methyl B12
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Not absorbed well even in Meta NX
Oral Dissolving tablets work well for most
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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
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Epsom Salt bath Soak feet or body
with 1-2 cup of salts 2/3 times/week
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– 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
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N Acetyl Cysteine 600 mg daily
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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)
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Daily. NOW brand has the AAC
Supplement Options (cont)
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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
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Especially important in eye sensitivity
which is common
Supplement Options (cont)
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Omega 3 (Flax seed or Fish oil that
has mercury removed) 1-2 tablets
per day. Helpful with Brain/Nerve
Healing
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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
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Supplements are a trial and error
Future: Metabalomics
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metabolic testing that can account for
genetic and environmental factors
MTHFR
An evolving science
Still more questions than answers
MTHFR
Questions?