Hi, been lurking awhile and figured I would post my results for any comments regarding them..
Sorry for the wordy long post, its been a rollercoaster 3 years for me..
Background, around 2011 started getting bad pain in the morning in my hands and feet to the point almost my whole body would hurt from movement.
Exercise intolerance to where I had to stop working out.
Saw various specialists, neuro diagnosed me with "noninflammatory myopathy".
Creatine Kinase over 600 but inflammation markers normal.
Muscle biopsy shows unknown myopathy according to UCLA.
Have been moderately anemic for over 15 years along with tryiglicerides over 1000, doctors don't know why.
Plus testosterone steadily dropping the past 12 years, around 140 the last check.
I have had minor bouts of these symptoms since my 20s, now mid50s.
Im 6' even and 210 lbs with a job working on heavy equipment and I try to be active as pain permits.
I have spent a small fortune on vitamins and supplements because the pain was getting worse even on three prescription pain meds.
Sooo, long story short I found high dose riboflavin and coq10 helped relieve the pain enough so I'm off the pain meds and just using OTC ones as needed.
Genetic doctor thought it may be an unknown genetic disease not MTHFR and doesn't want to do much as my symptoms have gotten better.
Right now, I still have low endurance, exercise intolerance and edema issues I'm trying to sort out, some days good some days notsomuch.
After getting the 23and me results in October I went ahead and started freddd's methylation protocol except for leaving out carnitine as my levels tested high and taking it makes me feel blah.
Things are slowly improving, I have added every other B related vitamin and it seems to help.
I am not taking multi's, I did before and it never helped.
Am taking assorted amino acids like choline and lysine along with D3 and magnesium.
I overdid things with salt I think and am taking aprox a gram of potassium per day to help sort out the edema.
So here are the relevant detox, methylation and mito homozygous and heterozygous SNPs, I'll leave the ok ones out.
CYP1B1 N453S rs1800440 CT +/-
CYP1B1 R48G rs10012 CG +/-
CYP2D6 S486T rs1135840 CG +/-
CYP2D6 T2850C rs16947 AG +/-
NAT2 G590A (R197Q) rs1799930 AG +/-
PON1 Q192R rs662 CC +/+
ACE Del16 rs4343 AG +/-
ADD1 G460W rs4961 GT +/-
ACAT1-02 rs3741049 AA +/+
AGT M235T/C4072T rs699 GG +/+
BHMT-02 rs567754 CT +/-
BHMT-08 rs651852 TT +/+
BHMT R239Q rs3733890 AG +/-
CBS A13637G rs2851391 CT +/-
CBS A360A rs1801181 AG +/-
COMT H62H rs4633 CT +/-
COMT V158M rs4680 AG +/-
DAO rs2070586 AG +/-
DAO rs3741775 AC +/-
FOLR2 rs651933 AG +/-
GAD1 rs2058725 CT +/-
GAD1 rs3791850 AG +/-
GAD1 rs3791878 GT +/-
GAD1 rs10432420 AG +/-
MTHFD1L rs17349743 CT +/-
MTHFD1L rs803422 AG +/-
MTHFR C677T rs1801133 AA +/+
MTHFS rs6495446 CC +/+
MTRR A66G rs1801394 AG +/-
MTRR-11 A664A rs1802059 AG +/-
MTRR rs1532268 CT +/-
NOS3 rs1800783 AT +/-
NOS3 rs1800779 AG +/-
PEMT rs4244593 GT +/-
PEMT rs4646406 AT +/-
PEMT rs7946 CT +/-
TCN1 rs526934 AG +/-
TCN2 C766G rs1801198 GG +/+
NDUFS3 rs4147730 AG +/-
NDUFS7 rs2332496 AA +/+
NDUFS7 rs1142530 TT +/+
NDUFS7 rs7258846 TT +/+
Sorry for the wordy long post, its been a rollercoaster 3 years for me..
Background, around 2011 started getting bad pain in the morning in my hands and feet to the point almost my whole body would hurt from movement.
Exercise intolerance to where I had to stop working out.
Saw various specialists, neuro diagnosed me with "noninflammatory myopathy".
Creatine Kinase over 600 but inflammation markers normal.
Muscle biopsy shows unknown myopathy according to UCLA.
Have been moderately anemic for over 15 years along with tryiglicerides over 1000, doctors don't know why.
Plus testosterone steadily dropping the past 12 years, around 140 the last check.
I have had minor bouts of these symptoms since my 20s, now mid50s.
Im 6' even and 210 lbs with a job working on heavy equipment and I try to be active as pain permits.
I have spent a small fortune on vitamins and supplements because the pain was getting worse even on three prescription pain meds.
Sooo, long story short I found high dose riboflavin and coq10 helped relieve the pain enough so I'm off the pain meds and just using OTC ones as needed.
Genetic doctor thought it may be an unknown genetic disease not MTHFR and doesn't want to do much as my symptoms have gotten better.
Right now, I still have low endurance, exercise intolerance and edema issues I'm trying to sort out, some days good some days notsomuch.
After getting the 23and me results in October I went ahead and started freddd's methylation protocol except for leaving out carnitine as my levels tested high and taking it makes me feel blah.
Things are slowly improving, I have added every other B related vitamin and it seems to help.
I am not taking multi's, I did before and it never helped.
Am taking assorted amino acids like choline and lysine along with D3 and magnesium.
I overdid things with salt I think and am taking aprox a gram of potassium per day to help sort out the edema.
So here are the relevant detox, methylation and mito homozygous and heterozygous SNPs, I'll leave the ok ones out.
CYP1B1 N453S rs1800440 CT +/-
CYP1B1 R48G rs10012 CG +/-
CYP2D6 S486T rs1135840 CG +/-
CYP2D6 T2850C rs16947 AG +/-
NAT2 G590A (R197Q) rs1799930 AG +/-
PON1 Q192R rs662 CC +/+
ACE Del16 rs4343 AG +/-
ADD1 G460W rs4961 GT +/-
ACAT1-02 rs3741049 AA +/+
AGT M235T/C4072T rs699 GG +/+
BHMT-02 rs567754 CT +/-
BHMT-08 rs651852 TT +/+
BHMT R239Q rs3733890 AG +/-
CBS A13637G rs2851391 CT +/-
CBS A360A rs1801181 AG +/-
COMT H62H rs4633 CT +/-
COMT V158M rs4680 AG +/-
DAO rs2070586 AG +/-
DAO rs3741775 AC +/-
FOLR2 rs651933 AG +/-
GAD1 rs2058725 CT +/-
GAD1 rs3791850 AG +/-
GAD1 rs3791878 GT +/-
GAD1 rs10432420 AG +/-
MTHFD1L rs17349743 CT +/-
MTHFD1L rs803422 AG +/-
MTHFR C677T rs1801133 AA +/+
MTHFS rs6495446 CC +/+
MTRR A66G rs1801394 AG +/-
MTRR-11 A664A rs1802059 AG +/-
MTRR rs1532268 CT +/-
NOS3 rs1800783 AT +/-
NOS3 rs1800779 AG +/-
PEMT rs4244593 GT +/-
PEMT rs4646406 AT +/-
PEMT rs7946 CT +/-
TCN1 rs526934 AG +/-
TCN2 C766G rs1801198 GG +/+
NDUFS3 rs4147730 AG +/-
NDUFS7 rs2332496 AA +/+
NDUFS7 rs1142530 TT +/+
NDUFS7 rs7258846 TT +/+