Yaski SNPs - questions

[BiancaS]

Hi, I have been supplementing with a customised mix of vitamins and supplements based on my Yasko SNP results, as well as my Metamatrix results (which tie up very well to the SNP results). In addition, I have been on the 8th blood wash and have also undergone EDTA and DMSA chelation. All metals are out, apart from some residual Aluminium and Nickel. I still have 2 more EDTA/DMSA sessions to go and in parallel, I started taking Malic Acid to address the residual aluminium. Nevertheless, I do not seem to be making the progress I would have liked to. There is some improvement, but i don't think my methyliation has kicked back into gear. I suspect I still have an issue somewhere in my folate metabolism, as well as in my transsulfuration, which I can't seem to get my head around.

My SNP resuts are:
COMT V158M (+/-)
COMT H62H (+/-)
VDR Taq (+/-)
VDR Fok (+/-)
MAO A R297R (+/+)
MTHFR C677T (+/-)
MTHFR 1298C (+/-)
MTRR A66G (+/-)
MTRR 11 (+/-)
BHMT 1 (+/-)
BHMT 8 (+/-)
AHCY 1,2,19 (+/-)
CBS699T (+/-)
CBS A360A (+/+)
SHMT C1420T (+/-)
NOS D298R (+/-)

All other are (-/-), including the SUOX S370S.

I do have adrenal fatigue and some blood sugar issues, which I guess is in line with the above SNPs. Not sure if my G6D... Enzyme is also faulty, as this was not tested. My customised multivitamin includes 400mg chromium and 200mg vanadium for that purpose. I also use cinnamon in foods as often as possible and went for a LOGI diet, which should take care of the issue. My fasting glucose level went down from 95 to 85, which indicates I am on the right path, so that can't be a problem.
Glutathione was low, but has been brought up with glutathione IVs, which helped my functioning GST enzyme system kick into gear. Not a long term solution, I know, so now I still have to figure out how to get the methyliation going properly.

I believ my probblem is either in the B12/Folate or the transulfuration. I do take 1 B-Complex from pure encapsulations a day, which gives me 400mcg of Methylcolbalamin and 400mcg of 5MTHF per day. I addition, I take a 1000mcg injection in an iv drip per week. Based on my genetics, I understand that I don't need that much B12. Urine MMA is also not detectable, which indicates I should be fine there. Urine FIGLU is also great, so I should not have any folate issue, but I am not sure on that. All alternative medicine testings I have done so far, indicate I need folic acid (!). Maybe just 5MTHF is not enough and I need a second form?

What is also puzzeling to me, is my constellation of CBS upregulation, together with my SUOX (-/-). The Yasko test indicates that for the SUOX, no support is needed, and that field is green coloured, while now I have read, that "normal" suox is (+/+)!!!
The Metamatrix test results showed typical CBS upregulation (high taurine, high alpha keto glutarate, low BH4, etc, etc). So I am refraining from taking sulfates at the momennt. However, now I understand that my SUOXX enzyme might impair the conversion of Cystein to Sulfate, which means I might need sulfates? Maybe this is impairing my own formation of glutathione?
My moly was low, so I am supplementing with 500mcg daily. Copper is at 3mg, as thsi was low as well. Zinc 30mg (I have HPU), B6 only 12.5 mg active/12.5mg inactive, just what is in the B-Complex. I take additional active B2 (36.5mg), 5mg Biotin for blood sugar and NADH. Fumarate was low, so I take around 900mg carnitine fumarate a day. That fits well to the high lactate which was found and my apparent problem with carbohydrate metabolism. I take 100mg of CQ10 (Ubiquinol) a day, Vitamin D, Super K tablet.

Since my BH4 levels were low, I have now started on low dose of Kuvan, at 2mg per day. I had some dizziness the first few days, but that was it. However, I seem to have developped some insomnia.

New blood results indicated that I have now replenished my deficient minerals and am now on a high level, which means I might want to cut down a bit.

My underlying problem is lyme, which was coupled with a gigantic tapeworm that made me loose an incredible amount of weight in a short space of time and which apparently I have fostered nicely with high doses of high quality supplements. I took doctors just 10 months to find it....

If anybody might have an idea what might be holding back the proper functioning of the methyliation cycle or how to supplement the combination of the CBS upregulation with my SUOX enzyme,, pls let me know. I intend to run another metamatrix panel in around 1-2 months time, once I have finished my current round of antibiotics.

Thanks!

 

[Rosebud Dairy]

I suspect I still have an issue somewhere in my folate metabolism, as well as in my transsulfuration, which I can't seem to get my head around.

My SNP resuts are:
COMT V158M (+/-)
COMT H62H (+/-)
VDR Taq (+/-)
VDR Fok (+/-)
MAO A R297R (+/+)
MTHFR C677T (+/-)
MTHFR 1298C (+/-)
MTRR A66G (+/-)
MTRR 11 (+/-)
BHMT 1 (+/-)
BHMT 8 (+/-)
AHCY 1,2,19 (+/-)
CBS699T (+/-)
CBS A360A (+/+)
SHMT C1420T (+/-)
NOS D298R (+/-)

All other are (-/-), including the SUOX S370S.



I believ my probblem is either in the B12/Folate or the transulfuration. I do take 1 B-Complex from pure encapsulations a day, which gives me 400mcg of Methylcolbalamin and 400mcg of 5MTHF per day. I addition, I take a 1000mcg injection in an iv drip per week. Based on my genetics, I understand that I don't need that much B12. Urine MMA is also not detectable, which indicates I should be fine there. Urine FIGLU is also great, so I should not have any folate issue, but I am not sure on that. All alternative medicine testings I have done so far, indicate I need folic acid (!). Maybe just 5MTHF is not enough and I need a second form?


Thanks!

I am only addressing the SNP for C677T + - Single right?

That is the only one I know I have. I do not have the benefit yet of the other testing (tho I want to!), nor have I done any testing whatsoever on metals. It may be happening, I just don't know it.

Many of us with even a SINGLE C677T do not tolerate folic acid. Your need would not be for folic acid, as that is artificial. Your need would actually be for a natural form of folate - folicin, folinic acid, or perhaps 5 MTHF (metafolin in vitamin form for easy reference).

When I have symptoms now of MERELY low folate, they are milder than symptoms of folic acid circulating in my body that won't go away completely for a couple of weeks. Just one meal of folic acid containing foods gave me a two week set back -- two weeks from my one little (seemingly so at the time - I just ate a little bread pudding after all!) mistake. In addition, when I was brain fogged, it was much harder to tie symptoms to certain things.

I don't know about all the rest, but I have had quite a struggle with just folic acid. It is now gone from all my foods and supplements, and I have made more forward progress from that along with my protocol (Active B protocol, just so you know) that contains metafolin. I do have to watch potassium and magnesium.

 

[greenshots]

The Suox -/- is just to keep people from being confused as everyone correlates +|+ as being a complete defect and so far, a complete defect here desn't exist since its thought to be incompatible with life. She used to report it as +|+ but everyone always freaked out so she had to change it. Yours is negative but having two CBS with the NOS isn't good at all so you're rght, you have transsufuration issues galore as well as mitochondrial fallout.

 

[Sparrow]

It's a huge puzzle, isn't it? Sounds like you're doing a lot of the same kind of thinking I am.

I'm interested by your BH4 medication. That seems to be a huge problem for me. Keep us posted on whether you see any benefit!

I concur with greenshots on the SUOX gene. Yours is the good version. Yay! (and my condolences on the rest of them. I know that sucks)

I'd definitely suggest keeping the sulfur foods and supplements to a minimum where possible. I can definitely tell the difference myself when I'm taking/eating too much, and I have much less severe CBS issues than you. As I understand it, excess sulfur increases ammonia, which then uses up BH4 in the detoxing process. So if yours is not yet optimal, it might be a good idea to reduce regardless of your genetic status. If you're concerned that sulfur might be playing a role in your problems, you might want to keep an eye on the glutathione IV and its effects, though I realize that's a difficult trade off of risk vs reward (I've been avoiding it, but may break down and give it a try in the future). I'm still taking some things with sulfur in them too. I cut out the appropriate veggies and a lot of meat to try to compensate some, but it's tough to tell for sure without more frequent testing of ammonia.

My other suggestion would be on the B vitamin front. I don't have the particular SNP requiring methylfolate supplementation, but I have seen people here benefiting from double your dose or much more. I know that the "upper limit" is not that high, but I also know that it was probably designed for an "average" person, and you're probably not. Might be worth a try, at least temporarily.

Maybe try some co-factors, or extra components to help with your methylation efforts and see if they do anything for you? SAMe, dibencozide (adB12), phosphatidyl serine? I know that's not a great answer, but again, it might be worth a try.

Beyond that, who knows. I tend to think that the malfunctions can lead to other problems, so that even once we fix the underlying genetic issues, we may be left with other things that continue (in particular viruses and other infections). Or that the genetic bit is only part of the picture.

I hope what I've said is appropriate. I can read "mostly" now for short periods, but I could totally see missing a detail with something like that. You seem to be keeping yourself very knowledgeable, so I'm sure you're probably going in the right direction. I would trust your judgment, and your awareness of what helps and what doesn't. I'm finding more and more that my instinct with these things is usually right. So if you're thinking it might be sulfur or methylation, I'd say try lowering your sulfur more for a while, or try a different form or extra B's (maybe try sublingual in addition to the injections for a while, just to see. Who knows with our crazy bodies where there might be unusual issues). Or alternately, if you've mostly covered the genetic tendencies, maybe turn your attention to a whole different approach to see if that helps further.

Good luck with the detective work.

 

[rydra_wong]

Hi, I have been supplementing with a customised mix of vitamins and supplements based on my Yasko SNP results, as well as my Metamatrix results (which tie up very well to the SNP results). In addition, I have been on the 8th blood wash and have also undergone EDTA and DMSA chelation. All metals are out, apart from some residual Aluminium and Nickel. I still have 2 more EDTA/DMSA sessions to go and in parallel, I started taking Malic Acid to address the residual aluminium. Nevertheless, I do not seem to be making the progress I would have liked to. There is some improvement, but i don't think my methyliation has kicked back into gear. I suspect I still have an issue somewhere in my folate metabolism, as well as in my transsulfuration, which I can't seem to get my head around.

My SNP resuts are:
COMT V158M (+/-)
COMT H62H (+/-)
VDR Taq (+/-)
VDR Fok (+/-)
MAO A R297R (+/+)
MTHFR C677T (+/-)
MTHFR 1298C (+/-)
MTRR A66G (+/-)
MTRR 11 (+/-)
BHMT 1 (+/-)
BHMT 8 (+/-)
AHCY 1,2,19 (+/-)
CBS699T (+/-)
CBS A360A (+/+)
SHMT C1420T (+/-)
NOS D298R (+/-)

All other are (-/-), including the SUOX S370S.

I do have adrenal fatigue and some blood sugar issues, which I guess is in line with the above SNPs. Not sure if my G6D... Enzyme is also faulty, as this was not tested. My customised multivitamin includes 400mg chromium and 200mg vanadium for that purpose. I also use cinnamon in foods as often as possible and went for a LOGI diet, which should take care of the issue. My fasting glucose level went down from 95 to 85, which indicates I am on the right path, so that can't be a problem.
Glutathione was low, but has been brought up with glutathione IVs, which helped my functioning GST enzyme system kick into gear. Not a long term solution, I know, so now I still have to figure out how to get the methyliation going properly.

I believ my probblem is either in the B12/Folate or the transulfuration. I do take 1 B-Complex from pure encapsulations a day, which gives me 400mcg of Methylcolbalamin and 400mcg of 5MTHF per day. I addition, I take a 1000mcg injection in an iv drip per week. Based on my genetics, I understand that I don't need that much B12. Urine MMA is also not detectable, which indicates I should be fine there. Urine FIGLU is also great, so I should not have any folate issue, but I am not sure on that. All alternative medicine testings I have done so far, indicate I need folic acid (!). Maybe just 5MTHF is not enough and I need a second form?

What is also puzzeling to me, is my constellation of CBS upregulation, together with my SUOX (-/-). The Yasko test indicates that for the SUOX, no support is needed, and that field is green coloured, while now I have read, that "normal" suox is (+/+)!!!
The Metamatrix test results showed typical CBS upregulation (high taurine, high alpha keto glutarate, low BH4, etc, etc). So I am refraining from taking sulfates at the momennt. However, now I understand that my SUOXX enzyme might impair the conversion of Cystein to Sulfate, which means I might need sulfates? Maybe this is impairing my own formation of glutathione?
My moly was low, so I am supplementing with 500mcg daily. Copper is at 3mg, as thsi was low as well. Zinc 30mg (I have HPU), B6 only 12.5 mg active/12.5mg inactive, just what is in the B-Complex. I take additional active B2 (36.5mg), 5mg Biotin for blood sugar and NADH. Fumarate was low, so I take around 900mg carnitine fumarate a day. That fits well to the high lactate which was found and my apparent problem with carbohydrate metabolism. I take 100mg of CQ10 (Ubiquinol) a day, Vitamin D, Super K tablet.

Since my BH4 levels were low, I have now started on low dose of Kuvan, at 2mg per day. I had some dizziness the first few days, but that was it. However, I seem to have developped some insomnia.

New blood results indicated that I have now replenished my deficient minerals and am now on a high level, which means I might want to cut down a bit.

My underlying problem is lyme, which was coupled with a gigantic tapeworm that made me loose an incredible amount of weight in a short space of time and which apparently I have fostered nicely with high doses of high quality supplements. I took doctors just 10 months to find it....

If anybody might have an idea what might be holding back the proper functioning of the methyliation cycle or how to supplement the combination of the CBS upregulation with my SUOX enzyme,, pls let me know. I intend to run another metamatrix panel in around 1-2 months time, once I have finished my current round of antibiotics.

Thanks!

Looks like you are now officially the one with the genetic map most like mine - previously it was someone with 12 the same, but you have 18 also! (We tied for the bad luck jackpot). Both my COMTs are +/+, my MAO A is only +/-, I have ACE +/+ but no MTHFR C677T, my MTRR A66G is +/+, my BHMT 1 is +/+, and I have the same CBS genes but my C699T is +/+ while my A360A is +/-. Otherwise we are the same. I wonder how similar we are in our lives??

I find DHEA makes a huge difference to me. I cant function w/o it. I believe it regulates the CBS genes. (Well actually I know that testosterone, made from DHEA is proven to regulate this gene, but probably estrogen does as well, just dunno).
It also protects my blood sugar and protects me from glutamate toxicity.

I do want to get a BH4 prescription. I have a doc appt Monday. The reason is to make sure my kidneys always work. I may have more problem with kineys due to BH4 issues + ACE.

Rydra

What Metametrix lab did you get that showed BH4? My lab from them did not show this. How did you know this: The Metamatrix test results showed typical CBS upregulation (high taurine, high alpha keto glutarate, low BH4, etc, etc). [I mean the part about what is typical for CBS? No one ever told me anything about my CBS, nor about my Metametrix panel - nor for that matter about my abysmally failed neurotransmitter panel].

PS did nothing for me - maybe I get it by diet. aB12 did nothing for me and no need per uMMA. mB12 - I do not need the sublingual - what is in Thorne Basic B is enough for me. One of my genes requires folinic acid which is in the Thorne. However, if I start taking the mega mega folate (which I may actually need) all bets are off on the mB12 as I seem to need more of STUFF UNKNOWN to be stable at higher folates. Havent figured that out yet because I cant eat a bottle of the stuff a day - it is impractical. I will discuss Deplin with my doc.

I have no problem whatsoever with sulfur. However, this may be due to DHEA. Because w/o DHEA I have glutamate toxicity bad enough to kill me and glutamate toxicity is a side effect of insufficient BH4 or magnesium. Oops - that didnt make sense. oh well - no sulfur issues for unknown reason.

When I dont have enough BH4 I cant pee. A web search revealed that FOLATE and Vitamin C INCREASE BH4, so when I have kidney issues, I take mfolate and magnesium and Vitamin C and I do it slowly as I cant take more water until I pee out what I already took. At such time I also eat only 400 calories of no fat, no protein, just something like rice to prevent ketones, which thicken the blood, but to also prevent food from thickening the blood. DOnt want to destroy fragile kidney tubules.

Did any of your tests prove you needed chelation? I thought COMT genes had less accumulation of heavy metals due to dopamine being protective for some reason. Who are you seeing to derive a protocol? Are you overwhelmed with all the defects? I havent much idea how to chart a course with so many defects and all the bazillion pills I have to take nauseate me. If you find someone who can prescribe a reasonable number that avoid nausea I'd reaaly like to hear it.

Take care...

by the way - did you ever have neurological testing of stuff like 5HIAA and HVA? Mine are ay out of range. I find this on a BH4 deficiency website:
BH4 Deficiencies - Screening Tests


NeurotransmitterMetabolites and Pterins in CSF

Impaired hydroxylation of tyrosine and tryptophan due to deficiency of BH4 reduces the formation of catecholamine and serotonin. The measurement of CSF neurotransmitter metabolites is of capital importance for clinical and treatment follow-up, as it allows to separate typical from atypical cases of BH4 deficiency (the latter are phenotypically defined by the absence of clinical signs and symptoms and do not need any treatment for biogenic amine deficiency).

Metabolism of tyrosine and tryptophan:

Following the hydroxylation of tyrosine and tryptophan to L-DOPA and 5-hydroxytryptophan, these products are decarboxylated by the aromatic amino acid decarboxylase to form the active neurotransmitters dopamine and serotonin. Dopamine is further hydroxylated by b-hydroxylase to noradrenaline, which can be methylated to form adrenaline. The main routes of catabolism of the catecholamines and serotonin involve either methylation by O-methyltransferase or formation of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) through the action of aldehyde dehydrogenase and monoamine oxidase. Depending on the type of HPA, the turnover of tyrosine and tryptophan can be influenced by different factors: e.g. actual plasma and CSF phenylalanine levels, transport of aromatic amino acids across the blood-brain barrier, residual activity of the defective enzyme in the brain, or gene dosage effects.

Metabolites:

In order to distinguish between the different variants of BH4 deficiency, i.e. typical (severe, general) and atypical (mild, peripheral, partial) forms, quantification of the neurotransmitter metabolites, 5HIAA and HVA, is essential. Quantification is easily performed using HPLC with electrochemical detection. Simultaneously, 3-O-methyl-DOPA, a metabolite of L-DOPA, and a marker of decarboxylation, can be measured.

Differential diagnosis:

Except for the atypical (mild, peripheral, partial) forms of GTPCH, PTPS, and PCD deficiencies, 5HIAA and HVA are dramatically decreased in the CSF of patients with the severe form of BH4 deficiency. The levels of both metabolites decrease with age in all BH4 deficiencies and a similar correlation was found in control children. In the mild forms of DHPR deficiency, 5HIAA is usually decreased, while HVA levels are normal.

In addition to BH4 deficiencies, neurotransmitter metabolites analysis is essential in disorders presenting without hyperphenylalaninemia:

Dopa-responsive dystonia; (DRD, Segawa disease), dominant GTPCH def.; OMIM#600225
Sepiapterinreductase (SR) deficiency (no OMIM)
Tyrosine hydroxylase (TH) deficiency; OMIM#191290
Aromatic L-amino acid decarboxylase (AADC) deficiency; OMIM#107930
Dopamine b-hydroxylase (DbH) deficiency; OMIM#223360
Collection of CSF specimen:


[I looked up dopa responsive dystonia and think I have the dystonia part...I'e been calling it ataxia. I've been clumsy all my life - my mom got be glasses cuz she thought it was because I couldnt see, but I kept right on being clumsy.

 

[greenshots]

Forgive me for disagreeing with you Rydra, on your own symptoms but you are adamant that you have no sulfur issues yet you have gut issues, headaches, lethargy, fogginess, shortness of breath (all classic sulfite toxicity now that yu've addressed the actve b12 and active folate issues) so I'm going to say you have them but don't recognize them. you can call it something else but if it walks like a duck..... Plus, you're not healthy yet so you really need to consider other issues, even if they go against what you want to believe sometimes. I've been there myself. You are on way too high of a dose of P5P and B 6 is well known for causing nausea, among other things. maybe instead of hitting each pathway you could consider taking smaller doses.

Testosterone actually speeds the CBS which is why boys often have more issues with autism. Testosterone also cleaves to heavy metals more making them less likely to excrete toxins. Estrogen is protective from excitotoxicity and heavy metals so its rare when you see a family of girls with autism, though they exist. When they do, they are the ones you see with 18-22 defects. its a sad world when we are all so laden with toxins we just can't cope anymore and instead of crashing at 60, we have children burning out.

Angela

Looks like you are now officially the one with the genetic map most like mine - previously it was someone with 12 the same, but you have 18 also! (We tied for the bad luck jackpot). Both my COMTs are +/+, my MAO A is only +/-, I have ACE +/+ but no MTHFR C677T, my MTRR A66G is +/+, my BHMT 1 is +/+, and I have the same CBS genes but my C699T is +/+ while my A360A is +/-. Otherwise we are the same. I wonder how similar we are in our lives??

I find DHEA makes a huge difference to me. I cant function w/o it. I believe it regulates the CBS genes. (Well actually I know that testosterone, made from DHEA is proven to regulate this gene, but probably estrogen does as well, just dunno).
It also protects my blood sugar and protects me from glutamate toxicity.

I do want to get a BH4 prescription. I have a doc appt Monday. The reason is to make sure my kidneys always work. I may have more problem with kineys due to BH4 issues + ACE.

Rydra

What Metametrix lab did you get that showed BH4? My lab from them did not show this. How did you know this: The Metamatrix test results showed typical CBS upregulation (high taurine, high alpha keto glutarate, low BH4, etc, etc). [I mean the part about what is typical for CBS? No one ever told me anything about my CBS, nor about my Metametrix panel - nor for that matter about my abysmally failed neurotransmitter panel].

PS did nothing for me - maybe I get it by diet. aB12 did nothing for me and no need per uMMA. mB12 - I do not need the sublingual - what is in Thorne Basic B is enough for me. One of my genes requires folinic acid which is in the Thorne. However, if I start taking the mega mega folate (which I may actually need) all bets are off on the mB12 as I seem to need more of STUFF UNKNOWN to be stable at higher folates. Havent figured that out yet because I cant eat a bottle of the stuff a day - it is impractical. I will discuss Deplin with my doc.

I have no problem whatsoever with sulfur. However, this may be due to DHEA. Because w/o DHEA I have glutamate toxicity bad enough to kill me and glutamate toxicity is a side effect of insufficient BH4 or magnesium. Oops - that didnt make sense. oh well - no sulfur issues for unknown reason.

When I dont have enough BH4 I cant pee. A web search revealed that FOLATE and Vitamin C INCREASE BH4, so when I have kidney issues, I take mfolate and magnesium and Vitamin C and I do it slowly as I cant take more water until I pee out what I already took. At such time I also eat only 400 calories of no fat, no protein, just something like rice to prevent ketones, which thicken the blood, but to also prevent food from thickening the blood. DOnt want to destroy fragile kidney tubules.

Did any of your tests prove you needed chelation? I thought COMT genes had less accumulation of heavy metals due to dopamine being protective for some reason. Who are you seeing to derive a protocol? Are you overwhelmed with all the defects? I havent much idea how to chart a course with so many defects and all the bazillion pills I have to take nauseate me. If you find someone who can prescribe a reasonable number that avoid nausea I'd reaaly like to hear it.

Take care...

by the way - did you ever have neurological testing of stuff like 5HIAA and HVA? Mine are ay out of range. I find this on a BH4 deficiency website:
BH4 Deficiencies - Screening Tests


NeurotransmitterMetabolites and Pterins in CSF

Impaired hydroxylation of tyrosine and tryptophan due to deficiency of BH4 reduces the formation of catecholamine and serotonin. The measurement of CSF neurotransmitter metabolites is of capital importance for clinical and treatment follow-up, as it allows to separate typical from atypical cases of BH4 deficiency (the latter are phenotypically defined by the absence of clinical signs and symptoms and do not need any treatment for biogenic amine deficiency).

Metabolism of tyrosine and tryptophan:

Following the hydroxylation of tyrosine and tryptophan to L-DOPA and 5-hydroxytryptophan, these products are decarboxylated by the aromatic amino acid decarboxylase to form the active neurotransmitters dopamine and serotonin. Dopamine is further hydroxylated by b-hydroxylase to noradrenaline, which can be methylated to form adrenaline. The main routes of catabolism of the catecholamines and serotonin involve either methylation by O-methyltransferase or formation of homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) through the action of aldehyde dehydrogenase and monoamine oxidase. Depending on the type of HPA, the turnover of tyrosine and tryptophan can be influenced by different factors: e.g. actual plasma and CSF phenylalanine levels, transport of aromatic amino acids across the blood-brain barrier, residual activity of the defective enzyme in the brain, or gene dosage effects.

Metabolites:

In order to distinguish between the different variants of BH4 deficiency, i.e. typical (severe, general) and atypical (mild, peripheral, partial) forms, quantification of the neurotransmitter metabolites, 5HIAA and HVA, is essential. Quantification is easily performed using HPLC with electrochemical detection. Simultaneously, 3-O-methyl-DOPA, a metabolite of L-DOPA, and a marker of decarboxylation, can be measured.

Differential diagnosis:

Except for the atypical (mild, peripheral, partial) forms of GTPCH, PTPS, and PCD deficiencies, 5HIAA and HVA are dramatically decreased in the CSF of patients with the severe form of BH4 deficiency. The levels of both metabolites decrease with age in all BH4 deficiencies and a similar correlation was found in control children. In the mild forms of DHPR deficiency, 5HIAA is usually decreased, while HVA levels are normal.

In addition to BH4 deficiencies, neurotransmitter metabolites analysis is essential in disorders presenting without hyperphenylalaninemia:

Dopa-responsive dystonia; (DRD, Segawa disease), dominant GTPCH def.; OMIM#600225
Sepiapterinreductase (SR) deficiency (no OMIM)
Tyrosine hydroxylase (TH) deficiency; OMIM#191290
Aromatic L-amino acid decarboxylase (AADC) deficiency; OMIM#107930
Dopamine b-hydroxylase (DbH) deficiency; OMIM#223360
Collection of CSF specimen:


[I looked up dopa responsive dystonia and think I have the dystonia part...I'e been calling it ataxia. I've been clumsy all my life - my mom got be glasses cuz she thought it was because I couldnt see, but I kept right on being clumsy.

 

[rydra_wong]

Forgive me for disagreeing with you Rydra, on your own symptoms but you are adamant that you have no sulfur issues yet you have gut issues, headaches, lethargy, fogginess, shortness of breath (all classic sulfite toxicity now that yu've addressed the actve b12 and active folate issues) so I'm going to say you have them but don't recognize them. you can call it something else but if it walks like a duck..... Plus, you're not healthy yet so you really need to consider other issues, even if they go against what you want to believe sometimes. I've been there myself. You are on way too high of a dose of P5P and B 6 is well known for causing nausea, among other things. maybe instead of hitting each pathway you could consider taking smaller doses.

Testosterone actually speeds the CBS which is why boys often have more issues with autism. Testosterone also cleaves to heavy metals more making them less likely to excrete toxins. Estrogen is protective from excitotoxicity and heavy metals so its rare when you see a family of girls with autism, though they exist. When they do, they are the ones you see with 18-22 defects. its a sad world when we are all so laden with toxins we just can't cope anymore and instead of crashing at 60, we have children burning out.

Angela

Angela,

I dont suffer from foggy brain - almost never. In the past I did maybe one day a month - if that - when I lost so much blood I needed salt, and salt would take care of it. Now I get adrenal exhaustion due to allergies (a well known cause) that requires salt from time to time (but I know that so I seldom get to the foggy stage). I would not have said I am lethargic either. I rate a 7 on the scale of this board. I can walk 16 miles and do on rail trails (did 3 today, too cold for more). I do not suffer from headaches of unknown cause - I used to get migraines 1/month during PMS and then, in fact, had 2 transient ishchemic incidents at 48 due to not knowing I had high blood pressure during PMS. After menopause I developed 100% all the time constant unilateral headache due to diagnosed hyper thyroid, which disappeared when I stopped taking Iodoral. It has manifested again several times (nowhere near as bad but exactly the same - unilateral and with tinnitis) due to slipping into thryoid issues when anemic as it takes iron to make thyroid hormones. Both times I checked I had low ferritin diagnosed. I have had lifelong anemia due to recurrant fibroid tumors and when bad enough it always caused shortness of breath - so it's something I recognise. SO far I see no sulfur issue... Oh, I dont really have gut issues...well I do have hypochlorhydria but as long as I take 1g olive leaf extract/ day I haev no issues at all...no h pylori, no candide, no dysbiosis, no ibs, no nothing. So I am not sure that counts as gut issues. I usually ignore the discussion about gut because they dont apply to me.

DHEA makes a HUGE difference to me. It make BOTH testosterone and estrogen. Th e estrogen is proven to protect the NMDA receptors from glutamate toxicity (and thus protect the brain and memory from magnesium loss). The estrogen also raises BH4 and I have 3 genes that lower and use up BH4. The DHEA-S itself lowers TNF-alpha and thus NF-kB, which un-dysregulates genes in the methyl cycle. The testosterone made from DHEA also regulates CBS. I had several studies about how it did so on my memory stick that was stolen. I cant research it now.

But - well - hell Angela, why do you think with TWO +/+ CBS genes that Yasko says are supposed to make my homocysteine VERY LOW, that mine goes VERY HIGH without active supplements (and no doubt astronomically high w/o any supplements)? This has been proven on my blood work! So either Yasko is wrong or the DHEA fixes it! I have had very high hormone levels my whole life. I have been entirely nonfunctional during PMS my whole life, but pretty damn fine when my hormones were pumping out. And DHEA fixes that 'nonfunctional' for me in half an hour - it is like a magic pill. Add to that that Yasko mostly treats kids who dont have hormonal help and probably has little experience with people supplementing DHEA and how it affects their genes. And voila - you see what I mean? There are only a few things unusual abut me that could pertain to two CBS and high homocysteine - Lifelong I have eaten every day high antioxidants, high inactive B vitamins, eggs (sulfur/methyl), and now supplement high DHEA, and I have 3 AHCY defects - possibly throws off the CBS? That's it. Nothing else and yet my HCY never goes low and only active methyl forms of the B's keep it from going high, which it did before I switched to active methyl supplements.

I actually feel better with sulphur and methyl. There are people who feel better with sulfur and methyl and I am not the only one. I cant recall right now what I read about that but it is not uncommon (I think even among CBS people). I read a paper somewhere that cysteine is an essential amino acid for some people. Do you know that insulin is made of two cysteines linked together?

I think one thing I may have is DRD - dopamine responsive dystonia (due to BH4 deficiency). I also think it's possible I have a G6PD disorder as I found it caused hemolytic anemia upon exposure to many meds, high blood glucose, or oxidative stress (not just fava beans).

I am one with 18 defects, like BiancaS. I believe I have Asperger's. I do not believe I have any heavy metals. My doctor thinks I must because it is common and wants to chelate but I am afraid and just dont see it. The reason is that I am often well. If I had heavy metals that would not be true. Since I take methylation and sulfur supplements every day, I would also not often be well on them if they were the source of problems.

I have observed becoming anemic whenevr I do not take my extra 50mg P5P (and when I look up causes of anemia P5P deficiency is listed. MANY people require extra P5P, I forget why). I do not know about P5P causing nausea...I cant say I ever noticed it. However B Complex always causes nausea. So does zinc, iron, TMG, and probably some other things. The things I know dont are hormones and antioxidants so sometimes that is all I want to take. My protocol that makes me well is 42 pills. Now really Angela - wouldn't you think that 42 pills would cause even YOU nausea? SO if that is what you mean by gut issues, you'd better think again.

But thanks for all the other help. If you know anything about G6PD, PKU, or BH4 deficiency or want to list your vitamin protocol that is large enough to be effective but not so large as to cause nausea, it could be interesting. Remember that with 18 genetic defects I have a LOT of issues to address and Yasko wants me to take more like 60 pills.

Rydra

My homocysteine (hcy) readings (normal is 6.3):
age 45 on inactive B100, antioxidants (2G C, 1g E), hcy 8
age 50 on inactive B100, antioxidants (2G C, 1g E), hcy 12 (less hormonal help)
age 51 B Right 2/day, 50mg P5P, 800 mcg mfolate, 1 Jarrow mB12 sublingual, 2g TMG, 7000 IU D, antioxidants (2G C, 1g E), hcy 6.1
age 52 Thorne Basic B 2x/day, 200mg P5P, 800 mcg mfolate, 2g TMG, 7000 IU D, antioxidants (2G C, 1g E), DHEA 75mg, pregnenolone 30mg, hcy 6.5 (note no mB12 sublingual and extra P5P)
age 52 Thorne Basic B 2x/day, 7000 IU D, antioxidants (2G C, 1g E), DHEA 75mg, pregnenolone 30mg, hcy 9

So note, w/o sufficient methylating supplements, my homocysteine rises, that I do not need sublingual mB12, and that extra P5P does not pull more homocysteine "down the drain", even if I dont supplement TMG. So based on my admittedly uncommon genes, P5P does not hurt one bit and can only help prevent glycation of my kidneys. Also, not shown above, is that every time I lower my DHEA I get back panic and shaking and constant low blood sugar issues.

It is a fact that you cannot surmise all that much from genes as diet completely overrides them in most cases. So depite everything Yasko says and observed in her patients, they are NOT YOU and there is no substitute for actually testing.

Plus, I DONT see what you're saying about testosterone. It does not compute. LITTLE boys dont have any more testosterone that LITTLE girls so any difference in their reaction to CBS genes cant be due to testosterone. Boys with CBS get BETTER when their hormones kick in. Witness, my Dad! So...there is a lot more going on here than just genes.

 

[hixxy]

After reading all these discussions I think I'm starting to regret having just send my 23andme genetic test away. Seems there's likely to be some important SNPs missing from it that are in the nutrigenomics test.


Can anyone have a peek at the 23andme/yasko spreadsheet and tell me what important SNPs tests I'll be missing?
https://spreadsheets.google.com/ccc?hl=en&key=tLJeH__1TXzdZvNnMS3Wq_A&hl=en#gid=0

One of the CBS is certainly missing, and I suspect this area is going to be a big problem for me.

hixxy.

 

[Dreambirdie]

How much do these tests cost?

 

[xrunner]

All metals are out, apart from some residual Aluminium and Nickel. I still have 2 more EDTA/DMSA sessions to go and in parallel, I started taking Malic Acid to address the residual aluminium. Nevertheless, I do not seem to be making the progress I would have liked to. There is some improvement, but i don't think my methyliation has kicked back into gear. I suspect I still have an issue somewhere in my folate metabolism, as well as in my transsulfuration, which I can't seem to get my head around.

My underlying problem is lyme, which was coupled with a gigantic tapeworm that made me loose an incredible amount of weight in a short space of time and which apparently I have fostered nicely with high doses of high quality supplements. I took doctors just 10 months to find it....

Thanks!

Hi Bianca,

I've read your post a couple of times but I'm not sure I got everything. It seems you've been following some very complex protocol. I've only heard of Yasko so I don't really understand all that complexity.
Just a couple of thoughts.
1. How can you be sure all metals have been removed? Tests are not very reliable and as far as I know it's the symptoms picture that should be relied on. I noticed you were on DMSA which I presume was for mercury but that chelator doesn't go intracellular. So there may be intracellular/organ residuals which will never show up on any test. Some use ALA + DMSA on a frequent dose chelation schedule to get mercury out of organs (brain, liver etc).
2. If your methylation cycle is not up to speed, metals detoxification may be lacking. Mercury in particular is detoxified via this pathway. And I think you also need good glutathione conjugation status to detoxify metals.
3. Lyme. This can be an additional burden which can explain why you methylation is not working as it should. Not sure what you've been doing for this but it takes a lot to get it under control.

Have a read at the thread below, last post, by Rich which explains what factors may hinder recovery in methylation.

"Even though the methylation cycle function can be brought closer to normal and glutathione can be raised in most PWMEs wth methylation treatment, the etiologies and accumulated toxins and/or pathogens in most cases will need to be treated directly and specifically as well. The particular ones differ from one case to another, but the possibilities of which I'm currently aware, based on experience with cases, are as follows: Lyme disease and coinfections; biotoxin illness, especially due to water-damage in buildings; high body burdens of toxic metals, especially mercury; entrenched viral and possibly retroviral infections that are able to hide from the immune system, such as by producing nagalase; HPU (hemopyrolactamuria, also called KPU or kryptopyroluria); serious gut dysbiosis; and deficiencies of essential nutrients."

http://forums.phoenixrising.me/showthread.php?16180-Methylation-study-and-C4A

 

[greenshots]

I wasn't surmising anything from your genes, it was based on your other posts saying how you felt so perhaps these were fleeting symptoms for you and are no longer an issue. I can only base things off of what people say and there have been so many different issues between PM and general posts that I typically avoid getting into specifics when its a PM.

The high homocysteine issue can be related to numerous defects. The CBS may drain alot so I wonder what your levels would be if it didn't. But, There are soemthing like 24 known SNPs for high homocysteine, including the CBS downregulation, which you may also have (Yasko doesn't test this one but its studied in alzheimer's). I studied the homocysteine/HCY issue alot a few years back since my dad died from alzheimer's and me and my son tested high for it as well. Yasko isn't as black and white as people make her out to be but in order to understand the general defects, most memorize a few things from each defect and behave as though its the Holy Grail. For instance, if you have the AHCY defects like my daughter does, you won't activate HCY in the first place so levels could be lower. If you have the BHMT defects you'll have high HCY like my son. There are so many variables and I only know of maybe 20 when there are probably closer to 100's for why HCY is high or low.

I'm just trying to get you to see that the path to wellness make be contrary to what we believe or want to believe sometimes. I remember when I thought it was pure crap that things like broccoli or blueberries could even be bad for you in the first place but having a COMT +|+ in my family, we know berries don't always process well here and problems can arise. broccoli is also good but has phenols and sulfur but do we get rid of it entirely? No way! That's the only veggie my kids eat so I pick and chooose my battles and just watch sulfur when I reasonably can. i think the trouble starts when people think its black & white or all or nothing because it really isn't.

Angela

Angela,

I dont suffer from foggy brain - almost never. In the past I did maybe one day a month - if that - when I lost so much blood I needed salt, and salt would take care of it. Now I get adrenal exhaustion due to allergies (a well known cause) that requires salt from time to time (but I know that so I seldom get to the foggy stage). I would not have said I am lethargic either. I rate a 7 on the scale of this board. I can walk 16 miles and do on rail trails (did 3 today, too cold for more). I do not suffer from headaches of unknown cause - I used to get migraines 1/month during PMS and then, in fact, had 2 transient ishchemic incidents at 48 due to not knowing I had high blood pressure during PMS. After menopause I developed 100% all the time constant unilateral headache due to diagnosed hyper thyroid, which disappeared when I stopped taking Iodoral. It has manifested again several times (nowhere near as bad but exactly the same - unilateral and with tinnitis) due to slipping into thryoid issues when anemic as it takes iron to make thyroid hormones. Both times I checked I had low ferritin diagnosed. I have had lifelong anemia due to recurrant fibroid tumors and when bad enough it always caused shortness of breath - so it's something I recognise. SO far I see no sulfur issue... Oh, I dont really have gut issues...well I do have hypochlorhydria but as long as I take 1g olive leaf extract/ day I haev no issues at all...no h pylori, no candide, no dysbiosis, no ibs, no nothing. So I am not sure that counts as gut issues. I usually ignore the discussion about gut because they dont apply to me.

DHEA makes a HUGE difference to me. It make BOTH testosterone and estrogen. Th e estrogen is proven to protect the NMDA receptors from glutamate toxicity (and thus protect the brain and memory from magnesium loss). The estrogen also raises BH4 and I have 3 genes that lower and use up BH4. The DHEA-S itself lowers TNF-alpha and thus NF-kB, which un-dysregulates genes in the methyl cycle. The testosterone made from DHEA also regulates CBS. I had several studies about how it did so on my memory stick that was stolen. I cant research it now.

But - well - hell Angela, why do you think with TWO +/+ CBS genes that Yasko says are supposed to make my homocysteine VERY LOW, that mine goes VERY HIGH without active supplements (and no doubt astronomically high w/o any supplements)? This has been proven on my blood work! So either Yasko is wrong or the DHEA fixes it! I have had very high hormone levels my whole life. I have been entirely nonfunctional during PMS my whole life, but pretty damn fine when my hormones were pumping out. And DHEA fixes that 'nonfunctional' for me in half an hour - it is like a magic pill. Add to that that Yasko mostly treats kids who dont have hormonal help and probably has little experience with people supplementing DHEA and how it affects their genes. And voila - you see what I mean? There are only a few things unusual abut me that could pertain to two CBS and high homocysteine - Lifelong I have eaten every day high antioxidants, high inactive B vitamins, eggs (sulfur/methyl), and now supplement high DHEA, and I have 3 AHCY defects - possibly throws off the CBS? That's it. Nothing else and yet my HCY never goes low and only active methyl forms of the B's keep it from going high, which it did before I switched to active methyl supplements.

I actually feel better with sulphur and methyl. There are people who feel better with sulfur and methyl and I am not the only one. I cant recall right now what I read about that but it is not uncommon (I think even among CBS people). I read a paper somewhere that cysteine is an essential amino acid for some people. Do you know that insulin is made of two cysteines linked together?

I think one thing I may have is DRD - dopamine responsive dystonia (due to BH4 deficiency). I also think it's possible I have a G6PD disorder as I found it caused hemolytic anemia upon exposure to many meds, high blood glucose, or oxidative stress (not just fava beans).

I am one with 18 defects, like BiancaS. I believe I have Asperger's. I do not believe I have any heavy metals. My doctor thinks I must because it is common and wants to chelate but I am afraid and just dont see it. The reason is that I am often well. If I had heavy metals that would not be true. Since I take methylation and sulfur supplements every day, I would also not often be well on them if they were the source of problems.

I have observed becoming anemic whenevr I do not take my extra 50mg P5P (and when I look up causes of anemia P5P deficiency is listed. MANY people require extra P5P, I forget why). I do not know about P5P causing nausea...I cant say I ever noticed it. However B Complex always causes nausea. So does zinc, iron, TMG, and probably some other things. The things I know dont are hormones and antioxidants so sometimes that is all I want to take. My protocol that makes me well is 42 pills. Now really Angela - wouldn't you think that 42 pills would cause even YOU nausea? SO if that is what you mean by gut issues, you'd better think again.

But thanks for all the other help. If you know anything about G6PD, PKU, or BH4 deficiency or want to list your vitamin protocol that is large enough to be effective but not so large as to cause nausea, it could be interesting. Remember that with 18 genetic defects I have a LOT of issues to address and Yasko wants me to take more like 60 pills.

Rydra

My homocysteine (hcy) readings (normal is 6.3):
age 45 on inactive B100, antioxidants (2G C, 1g E), hcy 8
age 50 on inactive B100, antioxidants (2G C, 1g E), hcy 12 (less hormonal help)
age 51 B Right 2/day, 50mg P5P, 800 mcg mfolate, 1 Jarrow mB12 sublingual, 2g TMG, 7000 IU D, antioxidants (2G C, 1g E), hcy 6.1
age 52 Thorne Basic B 2x/day, 200mg P5P, 800 mcg mfolate, 2g TMG, 7000 IU D, antioxidants (2G C, 1g E), DHEA 75mg, pregnenolone 30mg, hcy 6.5 (note no mB12 sublingual and extra P5P)
age 52 Thorne Basic B 2x/day, 7000 IU D, antioxidants (2G C, 1g E), DHEA 75mg, pregnenolone 30mg, hcy 9

So note, w/o sufficient methylating supplements, my homocysteine rises, that I do not need sublingual mB12, and that extra P5P does not pull more homocysteine "down the drain", even if I dont supplement TMG. So based on my admittedly uncommon genes, P5P does not hurt one bit and can only help prevent glycation of my kidneys. Also, not shown above, is that every time I lower my DHEA I get back panic and shaking and constant low blood sugar issues.

It is a fact that you cannot surmise all that much from genes as diet completely overrides them in most cases. So depite everything Yasko says and observed in her patients, they are NOT YOU and there is no substitute for actually testing.

Plus, I DONT see what you're saying about testosterone. It does not compute. LITTLE boys dont have any more testosterone that LITTLE girls so any difference in their reaction to CBS genes cant be due to testosterone. Boys with CBS get BETTER when their hormones kick in. Witness, my Dad! So...there is a lot more going on here than just genes.

 

[rydra_wong]

Huh. So the Yasko gene map doesnt tell the whole story even about it's bit of the universe.

Well, I have two CBS +/+ yet high homocysteine.
I have two COMT +/+, yet low dopamine and no methy sensitivity.
I have 3 genes that deplete BH4 (including MTHFR 1298) and yet can eat 80g protein w/o going out of range on serum ammonia.

So
(1) we do not know enough about these defects in comibination
(2) diet, environmental poisons, and pathogens can override genes
(3) nothing beats testing homocysteine, serum ammonia, uMMA, neurotranmitter levels, etc.
(4) I guess no one can afford a full gene map so we have to make guesses with only pieces (!).
(5) But, yes, what we were raised to believe is healthy may not be. (The example *I* would use is wheat/gluten).

Or, what I SHOULD say is that it
(1) appears that 3 genes depleting BH4 trump 2 COMT +/+ defects (it takes BH4 to make dopamine and methyls to get rid of dopamine; I am low dopamine)

I cannot reliably says what is trumping the other genes.

BiancaS, I think you misspoke when you said that CoQ10 is out of range due to CBS...did you mean due to BH4 deficiency? Because it takes BH4 to turn ubiquinone to the active form ubiquinol and you definitely have BH4 issues, as I do.

I tried 25mg BH4 2x/day plus 500mg tyrosine 2x/day. The tyrosine increased neural perfusion for me somewhat - a surprise as it is not a methylation supplement; as far as I can tell so far the BH just caused me low blood sugar (miserable-! when supplements throw me into low blood sugar eating doesnt entirely get me out and it's shudder shudder shudder. I think it must improve insulin resistance for something - I get the same reaction to >100mg alpha lipoic acid).

The tyrosine effect makes me think I have infection/inflammation going on as dopamine is supposed to suppress/kill that or something. I'll have to look it up.

 

[drex13]

After reading all these discussions I think I'm starting to regret having just send my 23andme genetic test away. Seems there's likely to be some important SNPs missing from it that are in the nutrigenomics test.


Can anyone have a peek at the 23andme/yasko spreadsheet and tell me what important SNPs tests I'll be missing?
https://spreadsheets.google.com/ccc?hl=en&key=tLJeH__1TXzdZvNnMS3Wq_A&hl=en#gid=0

One of the CBS is certainly missing, and I suspect this area is going to be a big problem for me.

hixxy.

Hixxy,

Here are the Yasko SNP's that, from what I can tell, are not included in the 23andMe testing:

COMT L136L
MTRR S257T
VDR Fok
NOS D298E
SUOX S370S
SUOX A628G
ACE Del 16
*** MAO-A is there, but I don't understand the result. (23andMe rs6323).

Yasko results that are found on 23andMe include :

COMT V158M
COMT H62H
COMT 61
MTHFR A1298C
MTHFR C677T
MTRR A66G
MTRR H595Y
MTRR R350A
MTRR R415T
MTR A2756G
BHMT -1
BHMT -2
BHMT -4
BHMT -8
VDR Taq
CBS C699T
CBS A360A
SHMT C1420T
AHCY -1
AHCY -2
AHCY -19
ACAT1

The thing with the 23andMe is that you get the results, but no interpretation or recommendations, just raw data. Then the rest is up to you. With Yasko, I believe the cost is around $450 (I don't think any insurance will cover it), but you get interpretation of your results, and recommendations on how to deal with the whole picture of your methylation cycle, not just an individual polymorphism, because it could be that a single polymorphism may or may not be that big of a deal within the context of the overall picture. Here are a couple of links. The first does a good job of explaining some of the interplay of the different polymorphisms.
http://www.heartfixer.com/AMRI-Outcomes-Non-CV-Autism-Methyl Cycle.htm
The second is a translation of Yasko to 23andMe results.
http://www.mothering.com/community/a/genetics-and-detoxification

 

[rydra_wong]

drex13 - what a helpful, useful analysis!

 

[Rosebud Dairy]

thanks drex

that is helpful

 

[greenshots]

I know for sure that two of the most important genes aren't on the 23&me which are the ACAT & SHMT. My doctor wants to know those two the most since these trump the MTHFR's and even the CBS! I guess the ACAT is horrible for gut issues, mitochondrial problems, urinary irritation, & kidney & bladder stones, the latter being due, I think, to oxalates but her diagrams might help you more since I'm going off memory and I had way too much protein today so feel foggy for sure! I wish I was more like Rydra and could be so clear thinking at night and peppy enough to walk for miles! Maybe this year since I'm moving forward fairly well each month. Anyway, the SHMT is the one for big gut issues, poor healing, wrinkling (aging faster), and more bacterial problems, like strep or staph bacteria (the CBS is good for viruses & I know this firsthand since I get every cold that passes by me!). Since both the ACAT & SHMT give you more gut/bacterial issues, you're likely to have more waste building up just because of that so closing the CBS would trap it in there. I guess this is the reason you should focus on them before the CBS.

She told me about some work Dr. Deth did with the SHMT but I can't remember it now. Anyway, I take the SHMT spray because that's supposed to help and once I got over the nasty detox (real detox, not low potassium or folate since I was sicker than a dog spending quality time in the bathroom watching bacteria come on out the day after I started the spray)it has made a huge difference in my stomach problems and I don't seem to get boils or sinusitis after colds like I used to. She guessed about the SHMT from my MAP test but I'm not sure how she did that now. I was supposed to start at a diluted spray but I didn't want to bother with that and you'd better believe I diluted it the next time and it was fine after that. Lesson learned once again but I pay more attention to her instructions now and remember her mantra about "Most times, there's no prizes for hurrying, only pain."

The others that I think aren't there are a few of the BHMT's (or maybe we just don't know how they correlate yet?), AHCY, NOS, & VDR Fok. I remember my doc saying they were missing at least 10-12 of the 30 genes that Yasko's panel had and that at least 4 of them were "very" important. I wish she could correlate the 18-20 that are there but so far, she's only solved about 4 of them now and she told me that several of the ones on that diagram or cheatsheet or whatever had changed call letters so couldn't be reliably tracked anymore. I couldn't make heads or tails of that nifty spreadsheet myself because the longer I tried, the worse it got and I got even more confused about the ones I thought I had already figured out! It was miserable. If anyone does figure them out, please, please, please let me know because I only know about the CBS, MTHFR's, & now, the COMT status.

Thanks!
Angela

Oh, she has a website name for adults too but I can never remember that one and it all goes to the same website anyway:

www.autismnti.com

Go to the body chemistry page for simplified diagrams and explanations, although sometimes, I would like them to be longer descriptions and even simpler, which tells you how foggy I really am right now!

After reading all these discussions I think I'm starting to regret having just send my 23andme genetic test away. Seems there's likely to be some important SNPs missing from it that are in the nutrigenomics test.


Can anyone have a peek at the 23andme/yasko spreadsheet and tell me what important SNPs tests I'll be missing?
https://spreadsheets.google.com/ccc?hl=en&key=tLJeH__1TXzdZvNnMS3Wq_A&hl=en#gid=0

One of the CBS is certainly missing, and I suspect this area is going to be a big problem for me.

hixxy.

 

[drex13]

drex13 - what a helpful, useful analysis!



thanks drex

that is helpful

Your Welcome.

 

[drex13]

I know for sure that two of the most important genes aren't on the 23&me which are the ACAT & SHMT. My doctor wants to know those two the most since these trump the MTHFR's and even the CBS! I guess the ACAT is horrible for gut issues, mitochondrial problems, urinary irritation, & kidney & bladder stones, the latter being due, I think, to oxalates but her diagrams might help you more since I'm going off memory and I had way too much protein today so feel foggy for sure! I wish I was more like Rydra and could be so clear thinking at night and peppy enough to walk for miles! Maybe this year since I'm moving forward fairly well each month. Anyway, the SHMT is the one for big gut issues, poor healing, wrinkling (aging faster), and more bacterial problems, like strep or staph bacteria (the CBS is good for viruses & I know this firsthand since I get every cold that passes by me!). Since both the ACAT & SHMT give you more gut/bacterial issues, you're likely to have more waste building up just because of that so closing the CBS would trap it in there. I guess this is the reason you should focus on them before the CBS.

She told me about some work Dr. Deth did with the SHMT but I can't remember it now. Anyway, I take the SHMT spray because that's supposed to help and once I got over the nasty detox (real detox, not low potassium or folate since I was sicker than a dog spending quality time in the bathroom watching bacteria come on out the day after I started the spray)it has made a huge difference in my stomach problems and I don't seem to get boils or sinusitis after colds like I used to. She guessed about the SHMT from my MAP test but I'm not sure how she did that now. I was supposed to start at a diluted spray but I didn't want to bother with that and you'd better believe I diluted it the next time and it was fine after that. Lesson learned once again but I pay more attention to her instructions now and remember her mantra about "Most times, there's no prizes for hurrying, only pain."

The others that I think aren't there are a few of the BHMT's (or maybe we just don't know how they correlate yet?), AHCY, NOS, & VDR Fok. I remember my doc saying they were missing at least 10-12 of the 30 genes that Yasko's panel had and that at least 4 of them were "very" important. I wish she could correlate the 18-20 that are there but so far, she's only solved about 4 of them now and she told me that several of the ones on that diagram or cheatsheet or whatever had changed call letters so couldn't be reliably tracked anymore. I couldn't make heads or tails of that nifty spreadsheet myself because the longer I tried, the worse it got and I got even more confused about the ones I thought I had already figured out! It was miserable. If anyone does figure them out, please, please, please let me know because I only know about the CBS, MTHFR's, & now, the COMT status.

Thanks!
Angela

Oh, she has a website name for adults too but I can never remember that one and it all goes to the same website anyway:

www.autismnti.com

Go to the body chemistry page for simplified diagrams and explanations, although sometimes, I would like them to be longer descriptions and even simpler, which tells you how foggy I really am right now!

Not true, at least not as far as the results I received. Both SHMT and ACAT were in my results, as were all of the BHMT's that Yasko looks at. I can give you the "rs" #'s if you want to look them up in your raw data. By my count, there appears to be 7 genes missing from 23andMe that Yasko looks at. (Maybe 8). See my list above.

 

[hixxy]

Ah well. I'll have to see how I go and if all goes wrong or no improvement I may have to cough up for the nutrigenomics down the track. I just have so many expenses at the moment it just seemed better to do 23andme and get started now, rather then get nothing at all for a fair while.

I know for sure that two of the most important genes aren't on the 23&me which are the ACAT & SHMT. My doctor wants to know those two the most since these trump the MTHFR's and even the CBS! I guess the ACAT is horrible for gut issues, mitochondrial problems, urinary irritation, & kidney & bladder stones, the latter being due, I think, to oxalates but her diagrams might help you more since I'm going off memory and I had way too much protein today so feel foggy for sure! I wish I was more like Rydra and could be so clear thinking at night and peppy enough to walk for miles! Maybe this year since I'm moving forward fairly well each month. Anyway, the SHMT is the one for big gut issues, poor healing, wrinkling (aging faster), and more bacterial problems, like strep or staph bacteria (the CBS is good for viruses & I know this firsthand since I get every cold that passes by me!). Since both the ACAT & SHMT give you more gut/bacterial issues, you're likely to have more waste building up just because of that so closing the CBS would trap it in there. I guess this is the reason you should focus on them before the CBS.

She told me about some work Dr. Deth did with the SHMT but I can't remember it now. Anyway, I take the SHMT spray because that's supposed to help and once I got over the nasty detox (real detox, not low potassium or folate since I was sicker than a dog spending quality time in the bathroom watching bacteria come on out the day after I started the spray)it has made a huge difference in my stomach problems and I don't seem to get boils or sinusitis after colds like I used to. She guessed about the SHMT from my MAP test but I'm not sure how she did that now. I was supposed to start at a diluted spray but I didn't want to bother with that and you'd better believe I diluted it the next time and it was fine after that. Lesson learned once again but I pay more attention to her instructions now and remember her mantra about "Most times, there's no prizes for hurrying, only pain."

The others that I think aren't there are a few of the BHMT's (or maybe we just don't know how they correlate yet?), AHCY, NOS, & VDR Fok. I remember my doc saying they were missing at least 10-12 of the 30 genes that Yasko's panel had and that at least 4 of them were "very" important. I wish she could correlate the 18-20 that are there but so far, she's only solved about 4 of them now and she told me that several of the ones on that diagram or cheatsheet or whatever had changed call letters so couldn't be reliably tracked anymore. I couldn't make heads or tails of that nifty spreadsheet myself because the longer I tried, the worse it got and I got even more confused about the ones I thought I had already figured out! It was miserable. If anyone does figure them out, please, please, please let me know because I only know about the CBS, MTHFR's, & now, the COMT status.

Thanks!
Angela

Oh, she has a website name for adults too but I can never remember that one and it all goes to the same website anyway:

www.autismnti.com

Go to the body chemistry page for simplified diagrams and explanations, although sometimes, I would like them to be longer descriptions and even simpler, which tells you how foggy I really am right now!

 

[hixxy]

Is there anywhere you can get the individual genes tested that may be important that are missing in 23andme? I'm suspecting even if this is available, it's not economical...