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SNP Results. Please help
- Thread starter hugh_jass
- Start date
- Messages
- 30
Heres what I have from the chart and a little bit about myself. Please help. Ive waited so long to finally get this done.
HOMOZYGOUS
BHMT-02
BHMT-08
HETEROZYGOUS
VDR Bsm
VDR Taq
ACATI-02
MTHFR 1298C
MTRR A66G
MTRR A664A
CBS 699T
CBSA360A
My background is Im a 38 y/o male, severe fatigue, never wake up feeling refreshed - EVER, overweight, dieting never works, I have to kill myself at the gym to lose wieght (slowly) then it comes back twice as fast, I wreak of ammonia if my workout is anything above mild, I really think Im pre-Alzheimer because of my bad memory, my brain just doesnt process information sometimes, sometimes its difficult to make a sentence come out, low b-12 and never really goes up even with shots, almost non-existent Vitamin D (25), elevated liver enzymes, sprain muscles easily, loose joints, aches and pains everywhere, a lot of grey hair for my age, Low testosterone, libido is hit or miss, mood swings, Ive tried almost every diet/lifestyle/supplement and nothing makes me feel better, if it does make me feel anything at all its always worse. I function daily because of caffeine which I try to limit because I don't want to trash my adrenals, I dont take any medication (except a lot of advil) because its pointless. Im sure theres more that I have forgot. Please help with any suggestions on how I should start dealing with this. Thank you.
HOMOZYGOUS
BHMT-02
BHMT-08
HETEROZYGOUS
VDR Bsm
VDR Taq
ACATI-02
MTHFR 1298C
MTRR A66G
MTRR A664A
CBS 699T
CBSA360A
My background is Im a 38 y/o male, severe fatigue, never wake up feeling refreshed - EVER, overweight, dieting never works, I have to kill myself at the gym to lose wieght (slowly) then it comes back twice as fast, I wreak of ammonia if my workout is anything above mild, I really think Im pre-Alzheimer because of my bad memory, my brain just doesnt process information sometimes, sometimes its difficult to make a sentence come out, low b-12 and never really goes up even with shots, almost non-existent Vitamin D (25), elevated liver enzymes, sprain muscles easily, loose joints, aches and pains everywhere, a lot of grey hair for my age, Low testosterone, libido is hit or miss, mood swings, Ive tried almost every diet/lifestyle/supplement and nothing makes me feel better, if it does make me feel anything at all its always worse. I function daily because of caffeine which I try to limit because I don't want to trash my adrenals, I dont take any medication (except a lot of advil) because its pointless. Im sure theres more that I have forgot. Please help with any suggestions on how I should start dealing with this. Thank you.
Last edited:
caledonia
Senior Member
- Messages
- 4,610
Hi Hugh,
First off, here's info on the ammonia smell http://www.youbeauty.com/body-fitness/ask-a-scientist-ammonia-sweat
(This is really funny - I just did a random google search on ammonia smell in sweat to bring up this article - but I actually know the author, who is wife of a good friend of mine). She is a brain, so I take it the info is correct.
This would seem to fit in with elevated liver enzymes as the ammonia smell can be caused by liver problems.
Are you on a high protein, low carb diet? This could also cause the ammonia smell.
Have you ever been tested for Hepatitis C or do you think you could have ever been exposed to it (it's blood borne)? Hep C affects the liver and can create an extreme fatigue state very similar to ME/CFS.
Now onto the methylation SNPs:
You have two First Priority mutations, which are ACAT and CBS. ACAT is one of the "leaky gut genes". So if you have gut problems, you should treat ACAT along with the 4R Gut Rebuilding Program (linked in my signature). For ACAT you would take bile salts, or Holistic Health ACAT/BHMT formula designed by Amy Yasko. However, it's quite expensive, so that would depend on your budget.
You have many SNPs for CBS - both the major and minor CBS SNPs and many BHMT SNPs, which can create a CBS problem even in the absence of a CBS SNP. So I would definitely test to see if CBS is expressed, and if so, do CBS treatment before starting on Second Priority SNPs.
SHMT is the other First Priority mutation. 23andme doesn't test for that any more, so that's unknown. SHMT is the other "leaky gut gene". So especially if you have gut problems, I would just go ahead and treat for that too. You would take folinic acid for that. Note that some people don't tolerate folinic acid, so if you try it and feel worse, you would want to discontinue.
Second Priority mutations:
MTHFR A1298C - this is the minor mutation, and associated with mental health problems and addictions. You reported mood swings, so maybe this SNP is the culprit. You would take methylfolate for that.
MTRR A66G - this is B12 recycling. That's the major one, so that would be a drain on B12. For your COMT/VDR taq status, Yasko suggests taking all three types (hydroxycobalamin, methylcobalamin and adenosylcobalamin) with less methylcobalamin.
You have quite bad BHMT mutations - BHMT is the secondary methylation cycle. Yasko suggests taking sunflower lecithin to get TMG (tri methyl glycine) for that.
The last one is VDR Bsm which is the Vitamin D Receptor. This would make that run slow. You're already reporting low vitamin D, so keep supplementing for that. As an example, I have the same mutation with low Vitamin D. My doc had me on 5000iu of D3. The form and amount can make a difference, so check and see what you're taking.
The memory problems and grey hair can be related to low B vitamins, especially B12, so that all fits.
What form of B12 are you taking in your shots? What amount and how often?
The weight problem can be due to low metabolism due to low thyroid and/or adrenals, so I would get those checked. For the thyroid you need a complete thyroid panel, not just TSH. So that's TSH, T3, T4, reverse T3 and thyroid peroxidase antibodies. For the adrenals, you would do an adrenal saliva test. You would need a holistic type doc to order that, or you can do it directly through a direct order lab site such as http://www.integrativepsychiatry.net/.
The ammonia smell can also be due to low electrolytes. If you do have adrenal fatigue, you will be leaking out electrolytes like crazy, and those should be replaced. Low electrolytes can cause problems with sleep because it can cause your feet to twitch all night long, semi waking you up every few minutes. So especially if you also have things like heart palpitations, muscle cramps, restless legs and so forth, suspect that. Electrolytes are things like magnesium, sodium, potassium, and calcium. I find getting powders and dissolving them in water and drinking that four times a day works best for me.
If you decide to start on a methylation protocol, please read through the documents "Start Low and Go Slow" and "Roadblocks to Successful Methylation Treatment" before you begin. They're linked in my signature.
I also have many other useful documents linked in my signature.
First off, here's info on the ammonia smell http://www.youbeauty.com/body-fitness/ask-a-scientist-ammonia-sweat
(This is really funny - I just did a random google search on ammonia smell in sweat to bring up this article - but I actually know the author, who is wife of a good friend of mine). She is a brain, so I take it the info is correct.
This would seem to fit in with elevated liver enzymes as the ammonia smell can be caused by liver problems.
Are you on a high protein, low carb diet? This could also cause the ammonia smell.
Have you ever been tested for Hepatitis C or do you think you could have ever been exposed to it (it's blood borne)? Hep C affects the liver and can create an extreme fatigue state very similar to ME/CFS.
Now onto the methylation SNPs:
You have two First Priority mutations, which are ACAT and CBS. ACAT is one of the "leaky gut genes". So if you have gut problems, you should treat ACAT along with the 4R Gut Rebuilding Program (linked in my signature). For ACAT you would take bile salts, or Holistic Health ACAT/BHMT formula designed by Amy Yasko. However, it's quite expensive, so that would depend on your budget.
You have many SNPs for CBS - both the major and minor CBS SNPs and many BHMT SNPs, which can create a CBS problem even in the absence of a CBS SNP. So I would definitely test to see if CBS is expressed, and if so, do CBS treatment before starting on Second Priority SNPs.
SHMT is the other First Priority mutation. 23andme doesn't test for that any more, so that's unknown. SHMT is the other "leaky gut gene". So especially if you have gut problems, I would just go ahead and treat for that too. You would take folinic acid for that. Note that some people don't tolerate folinic acid, so if you try it and feel worse, you would want to discontinue.
Second Priority mutations:
MTHFR A1298C - this is the minor mutation, and associated with mental health problems and addictions. You reported mood swings, so maybe this SNP is the culprit. You would take methylfolate for that.
MTRR A66G - this is B12 recycling. That's the major one, so that would be a drain on B12. For your COMT/VDR taq status, Yasko suggests taking all three types (hydroxycobalamin, methylcobalamin and adenosylcobalamin) with less methylcobalamin.
You have quite bad BHMT mutations - BHMT is the secondary methylation cycle. Yasko suggests taking sunflower lecithin to get TMG (tri methyl glycine) for that.
The last one is VDR Bsm which is the Vitamin D Receptor. This would make that run slow. You're already reporting low vitamin D, so keep supplementing for that. As an example, I have the same mutation with low Vitamin D. My doc had me on 5000iu of D3. The form and amount can make a difference, so check and see what you're taking.
The memory problems and grey hair can be related to low B vitamins, especially B12, so that all fits.
What form of B12 are you taking in your shots? What amount and how often?
The weight problem can be due to low metabolism due to low thyroid and/or adrenals, so I would get those checked. For the thyroid you need a complete thyroid panel, not just TSH. So that's TSH, T3, T4, reverse T3 and thyroid peroxidase antibodies. For the adrenals, you would do an adrenal saliva test. You would need a holistic type doc to order that, or you can do it directly through a direct order lab site such as http://www.integrativepsychiatry.net/.
The ammonia smell can also be due to low electrolytes. If you do have adrenal fatigue, you will be leaking out electrolytes like crazy, and those should be replaced. Low electrolytes can cause problems with sleep because it can cause your feet to twitch all night long, semi waking you up every few minutes. So especially if you also have things like heart palpitations, muscle cramps, restless legs and so forth, suspect that. Electrolytes are things like magnesium, sodium, potassium, and calcium. I find getting powders and dissolving them in water and drinking that four times a day works best for me.
If you decide to start on a methylation protocol, please read through the documents "Start Low and Go Slow" and "Roadblocks to Successful Methylation Treatment" before you begin. They're linked in my signature.
I also have many other useful documents linked in my signature.
- Messages
- 30
Thanks so much for your reply! As far as liver problems I have been tested for EVERYTHING. I actually wish I had something so at least I would have an answer. I just eat regular diet. Probably over-carbed with bread but not a lot of meat except for an occasional sub or hot dog. Believe it or not I've done vegetarian, atkins (paleo), vegan, fruitarian, and raw juice. Nothing made me feel better so now I just eat what makes me happy. I can work on cleaning up the gut based on the 4R. Im not sure I would need bile salts because they took out my gall bladder a few years ago and now my intestines have a steady stream of bile in them which, by the way, makes for constant urgent bathroom breaks. My b-12 shots were a while ago. Methyl didnt make me feel any better, bring my levels up, and were expensive so I switched to cyano which didnt do anything either. I think I just recently got a sublingual with adeno and methyl. Problem is I buy all these supplements then forget to take them so now I have a bathroom full of partially consumed supplements. The vitamin D I was taking was a Life Extension brand. 7000IU. The thyroid has been tested many times and has checked out ok. My Holistic doc even gave me a small prescription of Armour thyroid just to see and I was jittery and couldn't sleep. I will try your recommendations. Thank you again.
- Messages
- 30
I just read what somebody posted about ammonia from Yasko:
Hopefully this will help to clarify what I see as the CBS C699T
relationship between ammonia, BH4 and the urea cycle. Also I have heard
that there has been a lot of talk about ammonia on this site lately.
Perhaps this will help to get parents up to date on where I am in
understanding this process.
If an individual has the CBS up regulation (C699T), then they will break
down homocysteine more rapidly. This depletes intermediates in the
methionine cycle as well as making more products from homocysteine.
Homocysteine will be converted to cystathionine. This in turn goes to
produce cysteine plus alpha keto glutarate and AMMONIA. What happens next
depends in part on the level of cysteine. When there are higher doses of
cysteine the body will then convert these intermediates to taurine.
(Taurine can be broken down into AMMONIA by bacteria in the gut.) However
if there are lower amounts of cysteine the body will choose to make
glutathione. So, first of all, the amount of cysteine will help to
determine whether we make glutathione or taurine. (J. Nutr. 133:2697-2702,
September 2003). If we have the CBS C699T we will be creating higher
levels of cysteine (due to enhanced breakdown of homocysteine) so we will
almost always be generating taurine rather than glutathione. While the
temptation may be to add glutathione (due to low glutathione levels), this
can create problems. High levels of certain sulfur byproducts can cause
problems in the body. The CBS up regulation is generating so many sulfur
products that added glutathione may be a problem for these individuals. So
a sensitivity to sulfur products and sulfur containing antibiotics may
also be indicative of this mutation. Molybdenum is used to help to convert
the neurotoxic sulfite to sulfate. This reaction will be heavily taxed in
individuals with CBS C69T + + and so you will often see low levels of
molybdenum in spite of constant supplementation. So individuals with a
homozygous CBS C699T will often have no homocysteine, high levels of
taurine (without supplementation) and low levels of glutathione on a urine
amino acid test, as well as low levels of molybdenum on an essential
element urine test.
What may more be of greater importance is thatwhen the need is for
energy, and not for cysteine, homocysteine produced is metabolized by
homocysteine desulfhydrase to alpha KG, NH3 and H2S(see series of
articles by Stipanuk, MH). Because we are dealing with mitochondrial
issues in most cases we are energy depleted. Methylation cycle mutations
will compound this energy problem as SAMe is used as a methyl donor for
carnitine and COQ 10, both important energy components of mitochondria.
Due to the enhanced conversion of homocysteine we are constantly depleting
intermediates of the methylation cycle. This includes SAMe (needed in this
case for carnitne and COQ10) as well as methionine. Both methionine and
SAMe are also useful for dealing with ammonia, however due to the CBS
C699T we are generating more ammonia and less methionine and SAME. The
more we supplement (which we need to do) the more ammonia we generate, a
true catch 22.
So AMMONIA is generated as a result of transulfuration when cystathionine
is converted to cysteine, from taurine as well as from alpha KG. Under
ideal conditions ammonia will be absorbed in reactions between glutamine,
glutamate and alpha KG. However, (see slides 113 to 116 from MTHFr, Metals
and Methylation ppt) aluminum interferes with glutamate dehydrogenase and
mercury interferes with glutamine synthase. This impairs the pathways that
are normally used for addressing ammonia. In addition, in some individuals
the GAD enzyme may be impaired as a result of viral infection and
methylation status (discussed in the autism book and in the Boston DVDs).
This will create a possible scenario where excess alpha keto glutarate is
being generated by breakdown of homocysteine but it cannot convert
properly to form ie GABA. However this excess alpha KG can combine with
the excess ammonia to form more glutamate. I have previously discussed at
length the relationship between glutamate, excitotoxins and nerve damage.
The ammonia problem can worsen with viral infection. So for an individual
with the homozygous CBS it is a real catch 22. We need the SAMe and
methionine (and Folapro and Intrinsic B12 for that matter) in order to
have methylation so that we can silence the virus and reduce the viral
load. However, every time we add anything that helps the cycle to flow
properly we end up generating more homocysteine, which flows directly to
make more ammonia and sulfur groups, and taurine. We need to address this
part of the cycle in order to get out of the catch 22 we are in. We are
currently evaluating RNAs that may be helpful to support healthy ammonia
levels.
Ammonia will be converted to urea via the urea cycle. This is an expensive
process from the standpoint of BH4 as it uses two molecules of BH4. So the
conversion of elevated levels of ammonia can quickly drain limited stores
of BH4. This can then impact the levels of serotonin and dopamine. I
believe that this is part of the reason why the combination of a CBS C699T
+ + with the A1298C homozygous mutation (which I believe impacts the
reverse reaction through the MTHFR to generate BH4) can have such a
devastating effect.
Hopefully this will help to clarify what I see as the CBS C699T
relationship between ammonia, BH4 and the urea cycle. Also I have heard
that there has been a lot of talk about ammonia on this site lately.
Perhaps this will help to get parents up to date on where I am in
understanding this process.
If an individual has the CBS up regulation (C699T), then they will break
down homocysteine more rapidly. This depletes intermediates in the
methionine cycle as well as making more products from homocysteine.
Homocysteine will be converted to cystathionine. This in turn goes to
produce cysteine plus alpha keto glutarate and AMMONIA. What happens next
depends in part on the level of cysteine. When there are higher doses of
cysteine the body will then convert these intermediates to taurine.
(Taurine can be broken down into AMMONIA by bacteria in the gut.) However
if there are lower amounts of cysteine the body will choose to make
glutathione. So, first of all, the amount of cysteine will help to
determine whether we make glutathione or taurine. (J. Nutr. 133:2697-2702,
September 2003). If we have the CBS C699T we will be creating higher
levels of cysteine (due to enhanced breakdown of homocysteine) so we will
almost always be generating taurine rather than glutathione. While the
temptation may be to add glutathione (due to low glutathione levels), this
can create problems. High levels of certain sulfur byproducts can cause
problems in the body. The CBS up regulation is generating so many sulfur
products that added glutathione may be a problem for these individuals. So
a sensitivity to sulfur products and sulfur containing antibiotics may
also be indicative of this mutation. Molybdenum is used to help to convert
the neurotoxic sulfite to sulfate. This reaction will be heavily taxed in
individuals with CBS C69T + + and so you will often see low levels of
molybdenum in spite of constant supplementation. So individuals with a
homozygous CBS C699T will often have no homocysteine, high levels of
taurine (without supplementation) and low levels of glutathione on a urine
amino acid test, as well as low levels of molybdenum on an essential
element urine test.
What may more be of greater importance is thatwhen the need is for
energy, and not for cysteine, homocysteine produced is metabolized by
homocysteine desulfhydrase to alpha KG, NH3 and H2S(see series of
articles by Stipanuk, MH). Because we are dealing with mitochondrial
issues in most cases we are energy depleted. Methylation cycle mutations
will compound this energy problem as SAMe is used as a methyl donor for
carnitine and COQ 10, both important energy components of mitochondria.
Due to the enhanced conversion of homocysteine we are constantly depleting
intermediates of the methylation cycle. This includes SAMe (needed in this
case for carnitne and COQ10) as well as methionine. Both methionine and
SAMe are also useful for dealing with ammonia, however due to the CBS
C699T we are generating more ammonia and less methionine and SAME. The
more we supplement (which we need to do) the more ammonia we generate, a
true catch 22.
So AMMONIA is generated as a result of transulfuration when cystathionine
is converted to cysteine, from taurine as well as from alpha KG. Under
ideal conditions ammonia will be absorbed in reactions between glutamine,
glutamate and alpha KG. However, (see slides 113 to 116 from MTHFr, Metals
and Methylation ppt) aluminum interferes with glutamate dehydrogenase and
mercury interferes with glutamine synthase. This impairs the pathways that
are normally used for addressing ammonia. In addition, in some individuals
the GAD enzyme may be impaired as a result of viral infection and
methylation status (discussed in the autism book and in the Boston DVDs).
This will create a possible scenario where excess alpha keto glutarate is
being generated by breakdown of homocysteine but it cannot convert
properly to form ie GABA. However this excess alpha KG can combine with
the excess ammonia to form more glutamate. I have previously discussed at
length the relationship between glutamate, excitotoxins and nerve damage.
The ammonia problem can worsen with viral infection. So for an individual
with the homozygous CBS it is a real catch 22. We need the SAMe and
methionine (and Folapro and Intrinsic B12 for that matter) in order to
have methylation so that we can silence the virus and reduce the viral
load. However, every time we add anything that helps the cycle to flow
properly we end up generating more homocysteine, which flows directly to
make more ammonia and sulfur groups, and taurine. We need to address this
part of the cycle in order to get out of the catch 22 we are in. We are
currently evaluating RNAs that may be helpful to support healthy ammonia
levels.
Ammonia will be converted to urea via the urea cycle. This is an expensive
process from the standpoint of BH4 as it uses two molecules of BH4. So the
conversion of elevated levels of ammonia can quickly drain limited stores
of BH4. This can then impact the levels of serotonin and dopamine. I
believe that this is part of the reason why the combination of a CBS C699T
+ + with the A1298C homozygous mutation (which I believe impacts the
reverse reaction through the MTHFR to generate BH4) can have such a
devastating effect.
caledonia
Senior Member
- Messages
- 4,610
Right, CBS can cause a problem with high ammonia. I have never heard of anybody who had an ammonia smell in their sweat from this though, so I'm not sure if it's related or not. Of course, most of us are not working out enough to have sweat, so maybe that's why it's never been discovered.
If you want me to see your reply, tag me like this @caledonia, and I will get an alert.
If the Armour Thyroid made you jittery, I think we can rule that out.
B12 shots alone won't create methyl groups - you need to take methylfolate along with it. Stay away from cyano, as it's synthetic and people with MTR/MTRR mutations can have problems absorbing it, similar to the problem with MTHFR and folic acid. Also, if you're having problems absorbing B12, some very low lithium supplementation can be helpful.
Do you have a history of infections or toxin exposure such as mercury fillings, lead, paints, formaldehyde, pesticides, cleaning products, new building materials, etc. Do you have problems tolerating chemicals, certain meds, etc.?
Have you had any possible exposure to ticks (Lyme?) The pain issues make me think of that.
Can you think of any triggers where you starting feeling worse? Ever been in a car accident? History of antibiotic use?
If you want me to see your reply, tag me like this @caledonia, and I will get an alert.
If the Armour Thyroid made you jittery, I think we can rule that out.
B12 shots alone won't create methyl groups - you need to take methylfolate along with it. Stay away from cyano, as it's synthetic and people with MTR/MTRR mutations can have problems absorbing it, similar to the problem with MTHFR and folic acid. Also, if you're having problems absorbing B12, some very low lithium supplementation can be helpful.
Do you have a history of infections or toxin exposure such as mercury fillings, lead, paints, formaldehyde, pesticides, cleaning products, new building materials, etc. Do you have problems tolerating chemicals, certain meds, etc.?
Have you had any possible exposure to ticks (Lyme?) The pain issues make me think of that.
Can you think of any triggers where you starting feeling worse? Ever been in a car accident? History of antibiotic use?
- Messages
- 30
@caledonia I had mercury fillings and had them removed by a bio-dentist a long time ago. Never really chelated though except for juicing cilantro. Ive been checked for lyme but it was negative but took MMS and some other stuff, including Marshall protocol to see if I could get ant die off reaction but nothing. I never really had exposure to chemicals though the smell of household cleaners and scented candles give me headaches. Im pretty sure I have lithium orotate, methylfolate and methyl 12 in my bucket o' supplements at home. I will try combining those after I start the cbs protocol for a while.
Triggers? None that I could think of. As far as I can remember Ive always had less energy than my friends growing up, had aches and pains, always woke up tired, sluggish, ADD in school, its just gotten worse over the years. I forgot to mention I have hyperhydrosis. It can be 40 deg out and if I step into the sun I will start sweating. Dont know if thats a tell-tale symptom to anything but I figured I would just throw that out there since I forgot earlier.
Triggers? None that I could think of. As far as I can remember Ive always had less energy than my friends growing up, had aches and pains, always woke up tired, sluggish, ADD in school, its just gotten worse over the years. I forgot to mention I have hyperhydrosis. It can be 40 deg out and if I step into the sun I will start sweating. Dont know if thats a tell-tale symptom to anything but I figured I would just throw that out there since I forgot earlier.
Last edited:
- Messages
- 30
Also, this morning I was looking at some blood work from a while ago and my Manganese was "none detected." Wonder what process would deplete my manganese.
caledonia
Senior Member
- Messages
- 4,610
You could still have mercury. Mercury makes MTHFR and MTR (folate and B12) run slow, even in the absence of those SNPs, thus making methylation run slow, thus making detox run slow, thus allowing metals to accumulate - a vicious cycle. If you have those SNPs in addition, then, of course, it's even worse.
You can do metal chelation with ALA, DMSA or whatever, but at this point your detox system is probably not running well (problems with scents is further evidence), so it's probably best to avoid it for now. I've been able to get rid of my mercury just by doing methylation supplements, which increases your body's natural detox ability.
Some Lyme tests are better than others. Igenex and Advanced Laboratory Services are supposed to be the best. The other ones may come up negative even if you do have Lyme.
As far as always not feeling well - what was the mercury status of your mother prior to you being born? The metals in the mother can be passed on to the fetus. Did she have any mercury fillings, or exposures to lead, or possibly other toxic exposures?
Manganese - I don't have much either. That's a common finding on people's Nutreval test results on this board. I'm not sure what causes that either. I'm doing a trace mineral supplement because I'm low in most of them.
Hyperhydrosis - I did a quick google search and it appears to be related to B12 deficiency, so that fits.
You can do metal chelation with ALA, DMSA or whatever, but at this point your detox system is probably not running well (problems with scents is further evidence), so it's probably best to avoid it for now. I've been able to get rid of my mercury just by doing methylation supplements, which increases your body's natural detox ability.
Some Lyme tests are better than others. Igenex and Advanced Laboratory Services are supposed to be the best. The other ones may come up negative even if you do have Lyme.
As far as always not feeling well - what was the mercury status of your mother prior to you being born? The metals in the mother can be passed on to the fetus. Did she have any mercury fillings, or exposures to lead, or possibly other toxic exposures?
Manganese - I don't have much either. That's a common finding on people's Nutreval test results on this board. I'm not sure what causes that either. I'm doing a trace mineral supplement because I'm low in most of them.
Hyperhydrosis - I did a quick google search and it appears to be related to B12 deficiency, so that fits.
- Messages
- 30
@caledonia Here are my Detox Snp's, are they important?
HOMOZYGOUS
CYP1B1 L432V rs1056836 GG +/+
NAT2 K268R rs1208 GG +/+
HETEROZYGOUS
CYP1B1 N453S rs1800440 CT +/-
CYP1B1 R48G rs10012 CG +/-
CYP2C9*2 C430T rs1799853 CT +/-
CYP3A4*1B rs2740574 CT +/-
GSTP1 I105V rs1695 AG +/-
GSTP1 A114V rs1138272 CT +/-
NAT2 I114T rs1801280 CT +/-
GSTT1 Present
HOMOZYGOUS
CYP1B1 L432V rs1056836 GG +/+
NAT2 K268R rs1208 GG +/+
HETEROZYGOUS
CYP1B1 N453S rs1800440 CT +/-
CYP1B1 R48G rs10012 CG +/-
CYP2C9*2 C430T rs1799853 CT +/-
CYP3A4*1B rs2740574 CT +/-
GSTP1 I105V rs1695 AG +/-
GSTP1 A114V rs1138272 CT +/-
NAT2 I114T rs1801280 CT +/-
GSTT1 Present
caledonia
Senior Member
- Messages
- 4,610
Yes - The GSTP1's affect glutathione. You have two of those, which you don't see so often. So you would have lower glutathione than normal. Those would be in addition to your MTHFR and MTRR SNPs. Glutathione is the body's major antioxidant. Lack of glutathione can cause all kinds of problems, including the sensitivity to chemical smells. You can actually use that to monitor how much glutathione you're making. If that improves, you know you're on the right path.
Methylation treatment will raise glutathione. It's possible to supplement directly, but many of us here don't tolerate it. Since you seem more functional, maybe it would be ok. If you do decide to supplement directly, Ben Lynch suggests taking NAD (form of niacin) with it to make sure you make the good reduced glutathione and not the bad oxidized glutathione.
Other than that you have several CYP1B1's which can cause estrogen dominance, which can cause estrogen related cancers such breast, cervical or prostate. You can eat cruciferous veggies or take DIM, IC3 (components in the cruciferous veggies) or calcium D glucarate. The calcium D glucarate is suggested for those with CBS mutations like yourself.
NAT detoxifies smoke, so don't smoke and stay away from second hand smoke.
CYP2C9 metabolizes many drugs including blood thinners like Coumadin. If you ever needed to take Coumadin, you would require less than normal.
CYP3A4 metabolizes 50-60% of all prescription medicines.
You can get a lot more detail from the Detoxigenomics report linked in my signature, including lists of drugs.
The general advice is to avoid toxins and eat your fruits and veggies.
Methylation treatment will raise glutathione. It's possible to supplement directly, but many of us here don't tolerate it. Since you seem more functional, maybe it would be ok. If you do decide to supplement directly, Ben Lynch suggests taking NAD (form of niacin) with it to make sure you make the good reduced glutathione and not the bad oxidized glutathione.
Other than that you have several CYP1B1's which can cause estrogen dominance, which can cause estrogen related cancers such breast, cervical or prostate. You can eat cruciferous veggies or take DIM, IC3 (components in the cruciferous veggies) or calcium D glucarate. The calcium D glucarate is suggested for those with CBS mutations like yourself.
NAT detoxifies smoke, so don't smoke and stay away from second hand smoke.
CYP2C9 metabolizes many drugs including blood thinners like Coumadin. If you ever needed to take Coumadin, you would require less than normal.
CYP3A4 metabolizes 50-60% of all prescription medicines.
You can get a lot more detail from the Detoxigenomics report linked in my signature, including lists of drugs.
The general advice is to avoid toxins and eat your fruits and veggies.
- Messages
- 30
@caledonia So I got my sulfate strips before the weekend started and I have shown over 1200 every time I test. I havent started the diet yet. I will though soon. I have experimented with some supplements and had one extremely clear minded day. The TMG and Calcium Glucarate should be here tomorrow. The CYP1B1 makes sense becasue my estrogen has always been high. So far Im taking daily 500mg of L-Ornithine, 20mg Manganese, and 250mcg Molybdenum. Ive done 1000mg Activated Charcoal every other night also. This sound good to start?
- Messages
- 30
@caledonia or anyone else that wants to take a look. Heres is a bunch of bloodwork I just got done. Tell me what stands out.
Amino Acid Profile, Qn, Plasma - Urine
Taurine 82.0 umol/L 29.2 - 132.3
Aspartate 3.0 umol/L 0.9 - 7.4
Hydroxyproline 13.4 umol/L 4.7 - 35.2
Threonine 73.5 umol/L 67.8 - 211.6
Serine 73.1 umol/L 48.7 - 145.2
Asparagine 38.9 umol/L 29.5 - 84.5
Glutamate 90.1 umol/L 18.1 - 155.9
Glutamine 363.2 umol/L 332.0 - 754.0
Sarcosine 1.5 umol/L 0.0 - 4.0
Alpha-aminoadipate 1.2 umol/L 0.0 - 2.2
Proline 162.8 umol/L 84.8 - 352.5
Glycine 210.0 umol/L 132.0 - 467.0
Alanine 434.0 umol/L 124.8 - 564.2
Citrulline 23.6 umol/L 13.7 - 63.2
Alpha-aminobutyrate 12.1 umol/L 5.4 - 34.5
Valine 254.8 umol/L 102.6 - 345.4
Cystine 15.9 umol/L 13.5 - 60.2
Methionine 21.6 umol/L 12.7 - 41.1
Homocitrulline <0.5 umol/L 0.0 - 1.7
Cystathionine 0.1 umol/L 0.0 - 0.7
Alloisoleucine 2.7 umol/L 0.4 - 3.2
Isoleucine 64.7 umol/L 27.7 - 112.8
Leucine 123.1 umol/L 54.9 - 205.0
Tyrosine 50.2 umol/L 31.1 - 118.1
Phenylalanine 51.7 umol/L 33.6 - 101.9
Argininosuccinate <0.1 umol/L 0.0 - 3.0
Beta-alanine 2.4 umol/L 1.1 - 9.0
Beta-aminoisobutyrate 0.7 umol/L 0.3 - 4.3
Homocystine <0.1 umol/L 0.0 - 0.1
Gamma-aminobutyrate <0.4 umol/L 0.0 - 0.3
Tryptophan 66.7 umol/L 23.5 - 93.0
Hydroxylysine 0.1 umol/L 0.1 - 0.8
Ornithine 68.5 umol/L 30.5 - 131.4
Lysine 180.9 umol/L 94.0 - 278.0
Histidine 69.4 umol/L 47.2 - 98.5
Arginine 42.6 umol/L 32.0 - 150.0
Comp. Metabolic Panel (14)
Glucose, Serum 84 mg/dL 65 - 99
BUN 11 mg/dL 6 - 20
Creatinine, Serum 0.94 mg/dL 0.76 - 1.27
eGFR If NonAfricn Am 102 mL/min/1.73 >59
eGFR If Africn Am 118 mL/min/1.73 >59
BUN/Creatinine Ratio 12 8 - 19
Sodium, Serum 139 mmol/L 134 - 144
Potassium, Serum 4.7 mmol/L 3.5 - 5.2
Chloride, Serum 98 mmol/L 97 - 108
Carbon Dioxide, Total 24 mmol/L 18 - 29
Calcium, Serum 10.1 mg/dL 8.7 - 10.2
Protein, Total, Serum 7.4 g/dL 6.0 - 8.5
Albumin, Serum 4.9 g/dL 3.5 - 5.5
Globulin, Total 2.5 g/dL 1.5 - 4.5
A/G Ratio 2.0 1.1 - 2.5
Bilirubin, Total 0.5 mg/dL 0.0 - 1.2
Alkaline Phosphatase, S 60 IU/L 39 - 117
AST (SGOT) 35 IU/L 0 - 40
ALT (SGPT) 60 IU/L 0 - 44 - High
Testosterone,Free+Weakly Bound
Testosterone, Serum 430 ng/dL 348 - 1197 03
Testost., % Free+Weakly Bound 30.2 % 9.0 - 46.0
Testost., F+W Bound 129.9 ng/dL 40.0 - 250.0
Folate, RBC and Serum
Folate, Hemolysate 455.0 ng/mL
Hematocrit 45.0 % 37.5 - 51.0
Folate, RBC 1011 ng/mL 499 - 1504
Folate (Folic Acid), Serum 14.0 ng/mL >3.0
Manganese, Plasma and RBC
Manganese, Plasma 1.1 ng/ml <2.0 04
Manganese, RBC 17.7 ng/ml 11.0 - 23.0
Carnitine, Total and Free
Carnitine, Total 51 umol/L 25 - 69
Carnitine, Free 40 umol/L 16 - 60
Esterified/Free 0.3 Ratio 0.1 - 0.9
Vitamin B3 (Niacin+Metabolite)
Nicotinamide 53.0 ng/mL 5.2 - 72.1
Nicotinic Acid <5.0 ng/mL 0.0 - 5.0
DHEA-Sulfate, Serum
DHEA-Sulfate, LCMS 259 ug/dL
Reference Range:
Adult Males (31 - 40y): 33 - 416
Molybdenum,
Serum <2.0 ng/ml <3.0
Estradiol
7.2 pg/mL 7.6 - 42.6 - Low
Vitamin B6, Plasma
Vitamin B6 18.0 ug/L 5.3 - 46.7
Total Glutathione
293 ug/mL 225 - 386
Vitamin B5
79.9 ng/mL 12.9 - 253.1
Vitamin B7
0.14 ng/mL 0.05 - 0.83
Calcitriol(1,25 di-OH Vit D)
92.0 pg/mL 10.0 - 75.0 - High
Histamine Determination, Blood
48 ng/mL 12 - 127 01
Vitamin D, 25-Hydroxy
16.4 ng/mL 30.0 - 100.0 - Low
Vitamin B1 (Thiamine), Blood
Vit. B1, Whole Blood 148.0 nmol/L 66.5 - 200.0
Vitamin B2, Whole Blood
210 ug/L 137 - 370
Histamine, Plasma
0.24 ng/mL <1.00
Homocyst(e)ine, Plasma
9.6 umol/L 0.0 - 15.0 03
Sedimentation Rate-Westergren
2 mm/hr 0 - 15
Vitamin B12
592 pg/mL 211 - 946
Magnesium, Serum
2.2 mg/dL 1.6 - 2.6
Zinc, Plasma or Serum
105 ug/dL 56 - 134
Ferritin, Serum
113 ng/mL 30 - 400
Ammonia, Plasma
57 ug/dL 27 - 102
Magnesium, RBC
5.4 mg/dL 4.2 - 6.8
Selenium, Serum/Plasma
264 ug/L 79 - 326 01
Critterina
Senior Member
- Messages
- 1,238
- Location
- Arizona, USA
@hugh_jass ,
The abnormal things that you've highlighted in red are all I see. Among them, your estrogen (estradiol) is no longer high; it's low. Have you been treating it? How?
Other than that, very low vitamin D and high liver enzymes, which I guess is no change for you. What would be interesting is to compare these results to a previous reading, to see what direction you're going. Were you still supplementing Vitamin D? I ask because it's very low.
Crit
The abnormal things that you've highlighted in red are all I see. Among them, your estrogen (estradiol) is no longer high; it's low. Have you been treating it? How?
Other than that, very low vitamin D and high liver enzymes, which I guess is no change for you. What would be interesting is to compare these results to a previous reading, to see what direction you're going. Were you still supplementing Vitamin D? I ask because it's very low.
Crit
- Messages
- 30
Hi @Critterina ,
I took abunch of supplements since i found out what my snp's were. One of the Detox SNP's had to do with estrogen so i took calcium d glucarate. I guess it worked. I see my b12 is still nowhere near optimal though despite supplementation. My Vit D is always low and i cant supplement because my other vit d(calcitrol) is already really high. If i take more it will make me calcitrol toxic which is painful. I still dont know why this happens, my doc says maybe a stealth virus like lyme. Not sure if i believe that though. I am hetero for some vdr's so that may be a problem too.
It's interesting that your Vitamin D 25-hydroxy is low but the active form, Calcitriol, is high. Do your 23andMe results show anything odd for the gene which creates the enzyme to convert it? You can see that gene at https://www.23andme.com/you/explorer/gene/?gene_name=CYP27B1
Another potential cause of elevated calcitriol can be slow VDR activity. I have a list of rare and problematic VDR mutations at http://forums.phoenixrising.me/index.php?threads/interesting-vdr-variations.24480/
Another potential cause of elevated calcitriol can be slow VDR activity. I have a list of rare and problematic VDR mutations at http://forums.phoenixrising.me/index.php?threads/interesting-vdr-variations.24480/
- Messages
- 30
Thanks @Valentijn ,
Thanks for the reply! I read your post. I was unaware of so many possible VDR SNP's. I thought only what popped up in genetic genie were the ones that mattered. Unfortunately, this is all still very confusing. The brain fog refuses to let me learn anything new. I went to 23 and Me and searched every snp in you post. I put what was listed in "Hugh Jass's Genome" in the "ME" column. I wasnt sure if those letters mattered or just if I actually have the SNP. Either way, Here is what I found:
rsID.........NAME....RISK...i#...........................................ME
rs11574143...G3612A..T CC
rs3847987....G461T...T CC
rs121909800..R391C...AA...i5000776 NONE
rs11574115...T362I...A?...rare GG
rs731236.....Taq1....G AG
rs267607169..V346M...TT...i5000773 NONE
rs7975232....Apa1....A AC
rs757343.....Tru91...C....TT is protective CC
rs1544410....Bsm1....T CT
rs121909802..E329K...T....i5000774 NONE
rs121909799..I314S...CC...i5000777 NONE
rs121909796..R271L...AA...i5000780 NONE
rs121909795..Q149X...AA...i5000781 NONE
rs2239182....A3419G..CC NONE
rs2239179....A1064G..T NONE
rs121909791..R70Q....TT...i5000785 NONE
rs121909794..R47Q....TT...i5000782 NONE
rs12717991...G166A...C CC
rs886441.....C4004T..A AG
rs3819545....T6046C..G AA
rs3782905....C6584G..C CG
rs2239186....T3341C..G AA
rs121909797..G46D....AA...i5000779 NONE
rs121909801..C88T....AA...i5000775 NONE
rs2238136....G4817A..A CT
rs2238135....G1633C..GG NONE
rs11168287...C8857T..GG AG
rs4516035....A1012G..CC CT
rs7139166....G1520C..CC CG
rs11568820...CDX2....A CC
Thanks for the reply! I read your post. I was unaware of so many possible VDR SNP's. I thought only what popped up in genetic genie were the ones that mattered. Unfortunately, this is all still very confusing. The brain fog refuses to let me learn anything new. I went to 23 and Me and searched every snp in you post. I put what was listed in "Hugh Jass's Genome" in the "ME" column. I wasnt sure if those letters mattered or just if I actually have the SNP. Either way, Here is what I found:
rsID.........NAME....RISK...i#...........................................ME
rs11574143...G3612A..T CC
rs3847987....G461T...T CC
rs121909800..R391C...AA...i5000776 NONE
rs11574115...T362I...A?...rare GG
rs731236.....Taq1....G AG
rs267607169..V346M...TT...i5000773 NONE
rs7975232....Apa1....A AC
rs757343.....Tru91...C....TT is protective CC
rs1544410....Bsm1....T CT
rs121909802..E329K...T....i5000774 NONE
rs121909799..I314S...CC...i5000777 NONE
rs121909796..R271L...AA...i5000780 NONE
rs121909795..Q149X...AA...i5000781 NONE
rs2239182....A3419G..CC NONE
rs2239179....A1064G..T NONE
rs121909791..R70Q....TT...i5000785 NONE
rs121909794..R47Q....TT...i5000782 NONE
rs12717991...G166A...C CC
rs886441.....C4004T..A AG
rs3819545....T6046C..G AA
rs3782905....C6584G..C CG
rs2239186....T3341C..G AA
rs121909797..G46D....AA...i5000779 NONE
rs121909801..C88T....AA...i5000775 NONE
rs2238136....G4817A..A CT
rs2238135....G1633C..GG NONE
rs11168287...C8857T..GG AG
rs4516035....A1012G..CC CT
rs7139166....G1520C..CC CG
rs11568820...CDX2....A CC
Everything is looking pretty normal ... all common variations without anything unusually fast or slow going on. So it's not looking like your problem is with VDR, unless it's on an SNP not tested by 23andMe.
- Messages
- 30
Thats good to hear. Thanks for yyour time and effort looking into that. It must be something else. I work for a very long time as a landscaper down here in S. Fla and even working in the sun 6 days a week my Vit D was low. Whenever i google low Vit D 25 and high Vit D 1,25 i see alot about the Marshall Protocol and suggesting a cell wall deficient bacteria living in my vdr. Who knows. Its so frustrating.