Posts made by MostlyCurious

@cs3000 Thank you for the resources, I appreciate it.

Hello,

As odd as the title sounds I'm dealing with genetic mutations that prevents me from up taking any form of vitamin c through my SVCT pathways.

I discovered this when 6 months ago a blood test taken based on my symptoms showed I had 0.4 vitamin C levels.

I began eating alllllll the oranges, fresh pressing juice, fruit smoothies every day, camu camu, rose hip, pure quali c ascorbic, liposamal, buffered with calcium/sodium, you name it I tried it.

Flash forward and I did the same test again to see how my levels are doing because while I felt better for a time my symptoms slowly came back.

0.2 this time...

So, I dug into my genetics (I have a full in-depth genetic sequencing) and low and behold..

I have a mutation in EVERY SVCT pathway that stops AA from being shuttled into my system.

I then hoped to use dehydroascorbic acid from upping my meat intake as a source (Ray discussed this) and did some more digging but big brick wall because... I also have a GLUT mutation specifically to do with transporting ascorbic acid so I'm also getting very little from meat

So, here's my issue.

The only thing I've seen some improvement with (wound healing/exhaustion/sore teeth/bruises coming back!) is from liposamal BUT the darn choline load in liposamal makes me have such bad OCD and what feels like ADHD after about one month of use.

It gets so bad I have no choice but to stop the liposamal.

I did try, out of desperation, Ascorbyl palmitate (fat soluble synthetic vitamin c), but it messes up my digestive system even in small amounts.

Anyhow, how would you go about off setting the cholines unwanted symptoms? I'm also a slow COMT so it really takes time for my body to process things out.

Honestly, I thought it would be cooler to be a pirate than it is🦜

@mostlylurking said in Genetically Vit A Deficient.:

@MostlyCurious said in Genetically Vit A Deficient.:

@mostlylurking said in Genetically Vit A Deficient.:

Were you tested for hypothyroidism? What is your temp when you wake up? A higher waking temp can be caused by high adrenaline rather than good thyroid function.

Do you know which test was used for testing B1? There are a number of B1 tests that do not show whether B1 is actually working. Info about B1 testing.

Ray Peat on carotene
One thing that stands out (to me at least) is that carotene interferes with progesterone production which would be a cause for high estrogen which messes with vitamin A conversion.

Your labs also include a lot of info on the so called "essential" fatty acids; omega 3's and omega 6's. If you have not already done so, reading Ray Peat's articles on fats would be helpful.

I hope you find this helpful.

Apologies for missing anything, I'm using the app and it's slightly stubborn at letting me see your reply while I'm replying kinda deal.

First let me say I'm not against the concept of Vitamin A toxicity, it's just that I don't have the typical symptoms or otherwise discussed with toxicity and I am dealing with a cultural predisposition that others likely aren't.

OK. I just thought it might be safer for you to simply eat high quality eggs for the vitamin A rather than taking a supplement but I guess you could switch to food sources when you stop the supplement in March.

My issue is I already eat tons of eggs that we raise alongside allll of the dairy, grass fed meat, even goat milk which has retinol vs beta carotene like cows milk.

So what I'm going to do is supplement until mid March, continue on my already naturally high in retinol diet, then retest my levels.

I do understand that serum levels aren't overly accurate, but it's what I have to go off of.

My only real physical issues are pure exhaustion (much of my own doing/workaholic), slight lower stomach (cortisol for sure), and recently my memory/word recall had crashed so hard that I actually decided to screen myself for Alzheimer's (high risk from being prescribed benzo long term in my 20's) and am thankfully fine there.

Exhaustion, low stomach acid, poor memory/word recall are all symptoms of thiamine deficiency. Thiamine deficiency is implicated in all the dementias. I had all of these symptoms you list and I recovered from all of them via high dose thiamine hcl.

I don't have any digestive issues and have never felt any different using thiamine. I also eat a fair amount of pork. I'll add it back in and see if anything changes.

Since beginning to use low dose retinol/K's/C I am seeing a steady improvement in all of the above, I don't plan on taking the retinol long term however and will pause mid March.

I took retinol for a few months; I quit because I intuitively realized it wasn't good for me.

See for me I feel the opposite, I'm watching everyone scream that it's basically the root cause of humans not being immortal () but everything in my body is screaming that's wrong for me.

I understand the improvements could be due to K/C.

I take K, I rely on drinking orange juice for my C.

I've been deep diving into Vitamin C and the truth is OJ just doesn't cut it if you're not living in a bubble that protects you from all of the things that deplete it.

Also I was drinking tons of OJ, eating oranges, all sorts of C rich foods. Just didn't matter.

I definitely agree that most C on the market is garbage, but when you literally have scurvy and wounds stop healing you pick a lesser of evil pretty quickly.

I've gone through 3 types all of which were actually clean: Pure Quali C absorbic acid made me shit no matter what, buffered with calcium C made me gassy (not normal for me), finally I found a liposomal C and while it does have sunflower lecithin (nothing else nasty) it doesn't bother my digestion and most importantly my wounds are now healing.

Anyhow:

I'm F 38 and come from a pretty genetically isolated culture with many weird mutations similar to the Navajo nations some remote African tribes.

(like many of us have a type of milk protein allergy that makes us go septic and die and sadly first mothers milk is typically how we find out... Turbo lactose intolerance ha)

Thiamine is used to treat septicemia. Some people are born with thiamine problems (genetic issue). The work around is to give high dose thiamine. Dr. Lonsdale worked with some of these cases when he was a pediatrician at the Cleveland Clinic.

Interesting, I'll dig into that more.

I went to two endocrinologist over the last few years due to developing severe reactive hypoglycemia after following Ray's principals and finally gaining a healthy amount of weight.

Reactive hypoglycemia is when you eat a meal with high carbs/sugars, then you release some insulin which makes your blood sugar go lower that it was before you ate, right? Maybe your liver isn't doing great so it is unable to store sugar like it's supposed to?

Kinda, it's where your pancreas over reacts to carbs and slams you with huge amounts of insulin. Then your numbers crash to dangerous lows, it happens in less than 30 mins sometimes even as you begin eating. It may have been my liver at the time, but B12 fixed it.

To be fair, I was very underweight my entire life (85-90 lbs/homeless street kid/shut down hunger single/lived off of cortisol & trauma) and my predisposition to developing type 2 was high due to that.

All of that to say, I'm fine now (I discovered a B12 deficiency) but my thyroid was fine, the main endocrinologist was actually shocked that I didn't have any thyroid issues & he dug really hard to find something.

Do you remember what your TSH was?

I don't recall at the moment but I also don't have the typical thyroid issues (beyond tired) that I see so many people suffer with.

My waking temps are always 98.4-6, HOWEVER they didn't budge past 97.9 until I corrected my B12 deficiency last year (used self injection).

I used to do that. Haven't done it in decades though. I recently found a sublingual b-12 that I'm trying out.

Yeah I tried the sublinguals for a time but ultimately I respond better to the shots. Side note: Daughter has pernicious anemia with the intrinsic factor so she's getting shots for life. She's already on thiamine

I also am not estrogen dominant (had him do a full panel), and while I understand that estrogen hides in tissue I have lower level of normal and have zero estrogen dominance symptoms. (Perfect skin with literally zero effort/easy periods/dangerously fertile/sex drive, etc)

For a time working with progest E in an attempt to cope with stress crashed my T, that's not fun especially since women have so little it's easy to do.

Thiamine and magnesium are very good for stress.
The impact of oxidative stress in thiamine deficiency: A multifactorial targeting issue
also
Interactions of oxidative stress with thiamine homeostasis promote neurodegeneration
also
Magnesium Status and Stress: The Vicious Circle Concept Revisited
I was unable to tolerate much magnesium until I began high dosing thiamine hcl. Thiamine supplementation improves the ability to tolerate magnesium.

I've never actually had an issue tolerating magnesium, I'm currently using magnesium chloride as it reliably gives me a wave of calm after taking it and I'm like... already body I hear ya.

Pine Pollen for a month brought my levels back up to normal thankfully & I didn't touch progesterone again.

Yes I'm aware of the issue with PUFAs which is likely why I'm "low". Also, even before learning about them from a Ray Peat standpoint I grew up culturally being told it was all poison.

So we mainly cooked with butter/tallow/lard and we were too poor to buy pre packed foods, while I know some scoff at any PUFA my main point is I didn't come to his work dripping in rancid canola oil

I didn't either; I came dripping in olive oil and beta-carotene.

I'm pretty sure I just sh*t out beta carotene since my liver can't uptake it that's just a wild theory with no backing, but since I can't process it and I'm not dealing with any skin going orange I'm just assuming it's not building up.

I'm not sure which B1 testing they did but I will reach out and ask.

Because the accurate thiamine test is so hard to find (my own doctor failed to find any lab in the U.S. that does it), many advise simply getting some thiamine hcl and taking some and evaluate your response. Thiamine hcl has a very long track record and is considered a safe supplement. However, because thiamine hcl doesn't absorb efficiently through the gut wall a much higher dose is needed than if you try TTFD thiamine. 100mgs of TTFD is considered an effective dose. However, some people (like me) can't tolerate TTFD because it uses glutathione to work. So I just take pure powder thiamine hcl, dissolved in water; my dose is 1gram, 2Xday. I'm following Dr. Costantini's protocol; he always used thiamine hcl to treat his Parkinson's Disease patients.

I've sent an email, I used that particular company because it was the most comprehensive blood test I could do at home. The vitamin C deficiency makes my veins collapse (no collagen synthesis=brittle veins) so giving blood is newly a nightmare.

As far as the oxidative stress I'm curious about the impacts of vitamin C deficiency on this.

I don't know; ever since I heard Ray Peat say that the vitamin C supplements are now full of free radicals (heavy metals?) I haven't taken any supplements of C. I drink orange juice for the C; I take high dose thiamine hcl for the antioxidant properties.

My magnesium levels are at the upper level of the range, but I'm not surprised as I do supplement.

Which type of magnesium are you taking? how much? When you take thiamine, you utilize magnesium more/better. They work together.

Thankfully I don't have any amalgam fillings, when you're poor they just pull the teeth out

Always look at the bright side of your life!

I know there are a lot of reasons to distrust genetics expert's and such but for the first time in years I'm finally seeing a real change in my health after aligning with my genetic oddities so it's hard to ignore that.

I think that the reason that I'm not keen on geneticists is because they (and most doctors) always blame EVERYTHING on genetics; genetics has become the scapegoat for the cause and since there's no "fix", the doctors feel fine about not actually curing anybody. They just push their toxic pharmaceuticals to "help" with symptoms. The concept of nutrition and vitamin deficiencies isn't even considered.

I hear you, truly. I guess because I'm the one who figured out my genetics and I'm not some lazy Dr saying "you're xxxx because of genetics" it's just more... applicable.

It's especially hard to ignore when I'm like "I have all of the mutations that prevent A/K uptake/synthesis and those are what my labs always say I'm low in".

But to throw a bone in that direction I'm also MTHFR but my folate levels are fine.

I'm dealing with mercury toxicity so my own problem doesn't have anything to do with genetics. Many health problems are caused by environmental toxins and also by vitamin/mineral deficiencies.

And one can drive another, also as a topic of interest mold exposure can deplete Vitamin A/C which just throws a wrench into everything since there's a mold epidemic in most first world sealed home countries.

I did find your response very helpful as I genuinely enjoy "talking out" possibilities and no doubt I'll think about all of this in the background for dots to connect.

As a side note: I don't really eat any processed foods so I'm not being exposed to the crazy amounts of Vit A being added to things as I think that's a huge factor for the folks that are suffering from toxicity.

Apparently, it's the supplementation of vitamin A that causes most toxicities to A. Dietary sources for vitamin A (eggs, dairy, etc) aren't the culprits. Beta-carotene is another story though so I avoid it.

I am opting for a retinol that's derived from cod liver oil (gasp, I know) vs totally synthetic. That took digging to find.

@aeblyve This is interesting as mine certainly started just before I sustained a horrible concussion. I wonder if the neck/whiplash treatment practice I was following helped my Tinnitus.

@otto It's possible, could also have been from correcting my cortisol rhythm.

Likey a chicken or egg situation.

@Orindere I had developed such bad/sudden Tinnitus that it was impacting my hearing.

The specialist I waited to see for months just said "Live with it, here's a pamphlet that gives you links to websites that make sound".

Anyhow, I took a spit based cortisol test and my levels were dangerously flipped. Basically no cortisol during the day and adrenaline crisis levels at night.

It took about 4 months of working on stress reduction via vagus nerve toning, cyproheptadine, aspirin, magnesium, sun bathing/grounding, going to bed by 9pm, morning sun in my eyes etc.

But it's gone!

There are a lot of other things that can cause the issue, including an EBV infection but it also feeds on cortisol/adrenaline so... Lower stress hormones and you could kill two birds with one stone.

It can also be from various nutrient deficiency or even heavy metal toxicity.

It's a lot like a headache/migraines, there are endless things that could be the root cause.

@mostlylurking said in Genetically Vit A Deficient.:

Were you tested for hypothyroidism? What is your temp when you wake up? A higher waking temp can be caused by high adrenaline rather than good thyroid function.

Do you know which test was used for testing B1? There are a number of B1 tests that do not show whether B1 is actually working. Info about B1 testing.

Ray Peat on carotene
One thing that stands out (to me at least) is that carotene interferes with progesterone production which would be a cause for high estrogen which messes with vitamin A conversion.

Your labs also include a lot of info on the so called "essential" fatty acids; omega 3's and omega 6's. If you have not already done so, reading Ray Peat's articles on fats would be helpful.

I hope you find this helpful.

Apologies for missing anything, I'm using the app and it's slightly stubborn at letting me see your reply while I'm replying kinda deal.

First let me say I'm not against the concept of Vitamin A toxicity, it's just that I don't have the typical symptoms or otherwise discussed with toxicity and I am dealing with a cultural predisposition that others likely aren't.

My only real physical issues are pure exhaustion (much of my own doing/workaholic), slight lower stomach (cortisol for sure), and recently my memory/word recall had crashed so hard that I actually decided to screen myself for Alzheimer's (high risk from being prescribed benzo long term in my 20's) and am thankfully fine there.

Since beginning to use low dose retinol/K's/C I am seeing a steady improvement in all of the above, I don't plan on taking the retinol long term however and will pause mid March.

I understand the improvements could be due to K/C.

Anyhow:

I'm F 38 and come from a pretty genetically isolated culture with many weird mutations similar to the Navajo nations some remote African tribes.

(like many of us have a type of milk protein allergy that makes us go septic and die and sadly first mothers milk is typically how we find out... Turbo lactose intolerance ha)

I went to two endocrinologist over the last few years due to developing severe reactive hypoglycemia after following Ray's principals and finally gaining a healthy amount of weight.

To be fair, I was very underweight my entire life (85-90 lbs/homeless street kid/shut down hunger single/lived off of cortisol & trauma) and my predisposition to developing type 2 was high due to that.

All of that to say, I'm fine now (I discovered a B12 deficiency) but my thyroid was fine, the main endocrinologist was actually shocked that I didn't have any thyroid issues & he dug really hard to find something.

My waking temps are always 98.4-6, HOWEVER they didn't budge past 97.9 until I corrected my B12 deficiency last year (used self injection).

I also am not estrogen dominant (had him do a full panel), and while I understand that estrogen hides in tissue I have lower level of normal and have zero estrogen dominance symptoms. (Perfect skin with literally zero effort/easy periods/dangerously fertile/sex drive, etc)

For a time working with progest E in an attempt to cope with stress crashed my T, that's not fun especially since women have so little it's easy to do.

Pine Pollen for a month brought my levels back up to normal thankfully & I didn't touch progesterone again.

Yes I'm aware of the issue with PUFAs which is likely why I'm "low". Also, even before learning about them from a Ray Peat standpoint I grew up culturally being told it was all poison.

So we mainly cooked with butter/tallow/lard and we were too poor to buy pre packed foods, while I know some scoff at any PUFA my main point is I didn't come to his work dripping in rancid canola oil

I'm not sure which B1 testing they did but I will reach out and ask.

As far as the oxidative stress I'm curious about the impacts of vitamin C deficiency on this.

My magnesium levels are at the upper level of the range, but I'm not surprised as I do supplement.

Thankfully I don't have any amalgam fillings, when you're poor they just pull the teeth out

I know there are a lot of reasons to distrust genetics expert's and such but for the first time in years I'm finally seeing a real change in my health after aligning with my genetic oddities so it's hard to ignore that.

I did find your response very helpful as I genuinely enjoy "talking out" possibilities and no doubt I'll think about all of this in the background for dots to connect.

As a side note: I don't really eat any processed foods so I'm not being exposed to the crazy amounts of Vit A being added to things as I think that's a huge factor for the folks that are suffering from toxicity.

@Mulloch94 Yeah it was a huge piece of my health puzzle, I definitely still have a ways to go but I'm seeing real change early on.

@CO3 You think genetics are fake and genetically might be a type of insect so we'll probably just have to agree to disagree here. Take care.

@AltarandThrone Learning about and digging into my own genetics has had a huge impact on my ability to pinpoint health issues.

I started with simply uploading an ancestry DNA file to self decode.

That service is great for beginners (I feel anyhow) because it automatically shows you a good amount of issues you may have like MTHFR or histamine issues etc.

From there I began looking into my specific culture(s) documented issues and was able to search for specific genes/SNPs to see if I carried them.

Sure enough there they were and directly related to issues I am facing.

Then I uploaded my data to StrateGene and that was an absolutely amazing report and gave me a huge amount of insight to my health.

For the first time in two years I finally feel like I'm making headway in with my health and understanding why my body is/is not responding in certain ways others do to various Peat concepts.

Anyhow, I think in general it allows us to make health decisions in a deeper more meaningful way.

@AltarandThrone I'd have to see what SNPs are related to see if it's the same but seems to be the same end results regardless of SNPs.

@CO3 It's not an "idea" it's something that I am living with and have confirmed through genetic testing. It's also something that's common in my culture, so much so we're discussed in the study I linked above.

We even have to be really careful during pregnancy as the low vitamin A levels often lead to Mathew Woods syndrome.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867105/

@CO3 Can't tell if you're trolling me or not but here's a dictionary definition for you:

genetically
adverb
US /dʒəˈnet̬.ɪ.kəl.i/ UK /dʒəˈnet.ɪ.kəl.i/

In a way that relates to genes (= units of DNA received by an animal or plant from its parents) :

The brain's response to pain is, at least in part, genetically determined.

Children born from embryo donation are not genetically related to either their mother or father.

In other words I have genetic differences that I inherited from my father that prevent my body/liver from working with vitamin A / beta carotene the same way other people's do.

@CO3 Genetically, I have genetic defects that prevent me from converting beta carotene into retinol. It's also hard for my body to utilize retinol.

Just to add to this thread:

I've been taking 25,000iu vitamin A (retinol) in the evening alongside 5000iu vitamin d for about four days now and I am already noticing a difference in how I'm feeling. (Less avoidance behaviors/more calm energy/body temps are stable at 98.8 vs spiking up to 99.4+ mid day)

I'm not low in vitamin D so I suspect it's the vitamin A although because I'm genetically weird I'm not sure if the improvements would last if I for example only supplement the retinol for say a month.

But also... maybe the increase in vitamin K is finally taking hold now that there's vitamin A?

At this point the best I can do is pay attention to how my body feels and try my best to wean eventually from the supplements onto a high vitamin A(retinol) vitamin K diet.

Just thinking out loud.

@Ruben I actually do eat a fair amount of copper rich foods and on my labs I'm in the upper range of normal.

I have a genetic mutation that means I'm chronically low in vitamin A.

I actually discovered this about a week before the RPF went into the deep end of vit A toxicity and to be honest it left me feeling adrift.

Anyhow, this is what I'm dealing with:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9096837/

"Casey reported that the G304K mutant STRA6 protein is mislocalized and has severely reduced vitamin A uptake activity (75). Besides rs151341424, four common missense variants, rs736118, rs351236, rs971756, and rs76336272, have been identified. Of those, rs971756 and rs736118 are reported to be linked to human diseases (77-84)"

I have all of the SNPs discussed from the information above (traveller DNA).

Anyhow, my vitamin A is low and I don't feel like a radiant healthy being.

I think it's potentially linked to my chronically low K1/K2 levels no matter how many well cooked greens.

I raise my own 100% grass fed beef, pork, eat organs, eggs, milk, butter, tallow, lard, grow my own garden, eat all the well cooked veggies, fruits etc.

You get the picture.

It just doesn't matter.

Here's the odd thing:

I'm also somehow deficient in Vitamin C, L-Valine, & L-Isoleucine which with the vitamin C being involved in protein metabolism I'm wondering if this is how I'm someone low in these AAs even though I eat ample varied proteins.

I've also read that vitamin c is needed for converting beta carotene into retinol so this feels like a double whammy with a genetic mutation that prevents it and a deficiency that increases it.

(I eat a lot of vit c rich foods by the way.)

Then, I got my liver testing back. I have elevated oxidative stress (not surprising) but somehow really low inflammation?

I guess I don't have a specific question or anything but welcome ideas, it's all just weird and I thought I'd let people know about the possibility of being genetically deficient in Vitamin A.

I've attached my labs.

Oddly enough Thyroid is fine, temps are always between 98.8 & 99.3