MethylTetraHydroFolate Reductase Deficiency MTHFR Help from the Human Genome project
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Transcript of MethylTetraHydroFolate Reductase Deficiency MTHFR Help from the Human Genome project
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?