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What is MTHFR A1298C Gene Mutation ?

  3 years, 12 months ago

By Helen Janneson Bense

A1298C single nucleotide polymorphism (SNP) affects the enzyme known as 5,10 MethyleneTetraHydroFolate Reductase (MTHFR). This polymorphism involves a down regulation of the MTHFR enzyme, responsible for the backwards reaction of the folate cycle, where 5-methylfolate (5MTHF) is converted into tetrahydrofolate (THF). This reaction is most important for the production of BH4 – tetrahydrobiopterin. Each turn of the folate cycle and conversion of 5MTHF to THF produces 1 molecule of BH4. In heterozygous and homozygous states, enzyme activity will be compromised by
approximately 30% and 70% respectively.

Functions of BH4
Cofactor for all three isotypes of nitric ... ..more

Lab Tests indicating a need to address Bacterial Imbalances:
History of chronic #ear infections
Maternal history of #Streptococcal infection
History of bacterial #pneumonia
Streptococcus, E coli on #CSA / #GI Profile
Other #bacterial #pathogens on CSA/GI Profile
Elevated kynurenic on #OAT / #Metabolic Test, CONFIRM with CSA/GI Profile
Elevated quinolinic on OAT/Metabolic Test, CONFIRM with CSA/GI Profile
Low gut #pH or high gut pH
High suberic on a #MAP or #OAT
High DHPPA on a MAP or OAT

#Supplements to balance / repopulate GI tract/ decrease E.coli and Strep:
Bowel Support Formula RNA
Special digestive enzymes
VDR Fok ... ..more

#Neurotransmitter
Lab Tests indicating a need for #Glutamate #GABA balance:
Elevated glutamate, #glutamine #glutamic acid on urine AA test
Elevated #aspartate #aspartic acid on urine AA test
Low GABA (gamma aminobutyric acid) on a urine AA test
Low GABA on a Neurotransmitter test
Elevated #quinolinic on #OAT #Metabolic Test
#Seizures
#Stims
Poor eye contact
#Aggressive behavior

#Supplements to balance Glutamate and GABA:
Nerve Calm Formula RNA
Comfort RNA
Be Calm Glutamate Spray/Gaba Spray
Melatonin Sleep Spray
#Progesterone cream- Pro-Gest Body Cream
GABA
Pycnogenol
Grape Seed Extract
Valerian Root
Jujube
#Lithium Orotate based on UEE levels
L-Theanine
Taurine (not for ... ..more

Elevated #glutamate , glutamine, glutamic acid on urine AA test
Elevated aspartate, aspartic acid on urine AA test
Low #GABA (gamma aminobutyric acid) on a urine AA test
Low GABA on a Neurotransmitter test
Elevated quinolinic on OAT/Metabolic Test
#Seizures
#Stims
Poor eye contact
#Aggressive behavior

Supports to balance Glutamate and GABA:
Nerve Calm Formula RNA
Comfort RNA
Be Calm Glutamate Spray/Gaba Spray
Melatonin Sleep Spray
Progesterone cream- Pro-Gest Body Cream
GABA
#Pycnogenol
Grape Seed Extract
Valerian Root
Jujube
#Lithium Orotate based on UEE levels
L-Theanine
Taurine (not for CBS + or SUOX Mutation unless suggested on testing)

#supplements ..more