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Guess your genetics (Yasko related...) - Page 13

post #241 of 307
Thread Starter 
Quote:
Originally Posted by changingseasons View Post
I finally get to participate in this thread (if only to ask questions and add confusion )!

Just got some more tests back for DD. She has the A1298C mutation, but NOT the Cwhatever mutation. And her folate level was high. (They were supposed to check B12 as well, but it kept getting missed on the orders.) Any ideas of what those 2 things mean?

I have been supping 5MTHFR... wouldn't that make her levels high? Wouldn't there be a cap on how much transfers through bm?
Yasko says the A1298C isn't about folate, it's about recycling BH4 (so folks with the mutation don't do that well). Tends to put you at risk for low BH4 = low dopamine/serotonin and/or high ammonia, especially if you have gut bugs to go along for the ride. All of which tends to produce highly moody/volatile kids in the autism world.

Quote:
Originally Posted by chlobo View Post
Does the Yasko panel have anything that looks at mitochondrial stuff? It seems possible that cell energy might be a problem.
Yeah - ACAT is a gene mutation related to fat metabolism and energy conversion. But she also watches the Kreb's cycle intermediaries on the MAP test very closely, and puts kids on mitochondrial support if they're out of whack.

Quote:
Originally Posted by whoMe View Post
Then that's a bit of the bh4/ammonia support stuff from yasko, but it wouldn't explain any folate/methylation links. Of all the mthfr combos, that one's supposedly the one with the fewest impacts (besides being -- for both, of course!) though I don't know enough of the yasko stuff to be able to say if she would agree.
From what I understand (DS doesn't have the A1298C mutation, but he has a NOS mutation, which tends to create a lot of the same issues), you don't tend to see problems from this mutation unless either ammonia gets high, or methylation begins working well. If you have clogs at other areas in the methylation cycle, this one isn't you're first concern.

Quote:
Originally Posted by Marnica View Post
hmmmm I need to figure this out! It's making me a little crazy.
I switched multis to one with folate (5mthf and folinic acid combo) and Ive been taking methyl b-12 in addition (only 1mg). Ive had a headache for a long time...thinking it's a detox reaction so have backed off the multis to a lower dose, but it's not helping....thinking I need to stop the methyl b-12's and see if that makes a difference. If it does that would be a indication of too many methyl groups from what I understand. However I do have some of the symptoms of low methyl groups, (allergies, estrogen dominance...not sure about amine detox??, lately have been getting sick more than usual?) I was thinking of getting the hydroxy b12 and seeing if that makes a difference.

For DS, after some tinkering, I'm thinking he is very sensitive to the methyl b12. It makes him more hyper, more meltdowns, crying etc...Also thinking to give him some hydroxy and see if it makes a difference. however he has many sxs of low methyl groups (gets sick alot, allergies....midline defects (or is this just a folate issue?) so I would think he would need MORE methyl groups not less. Im so confused!!!

PS - Shannon that is quite a WEB!! made my head spin a little!!!
It's way complicated. One thing I do know though is that Yasko ignores B12 "deficiency/too high" levels. She wants B12 byproducts sky high in pee, so I assume she wants them sky high in blood too. It's the one thing she uses very high doses for. She suggests everyone start with hydroxy, it's the best accepted, and then you will know the reaction you are seeing is to the B12 (so likely detox), rather than to the methyl groups. DS had pretty strong reactions to the hydroxy B12 at first. DH can't handle a single drop, gets a migraine (so for him we dilute in water and give a partial dose). Adults tend to have longer reactions, particularly to the core mehtylation supps (folate, B12).

DS had very low homocysteine too - Yasko's basic approach is to say those levels don't mean much until methylation is moving. Once it's moving, you often see very different biochemical levels. We're about to retest DS and find out how much has changed for him.

Sorry, I don't have the brainpower to be more coherent right now - off to bed!

Quote:
Originally Posted by mom61508 View Post
Which I still haven't read

Ok just to clarify I can assume my metylation is blocked because my B12 and Folate are high right? So, does this mean I SHOULD NOT be supping B12 or folate??
I'd supp the basic levels we talked about before, and take a look at other things that might be missing. The deal is that if you aren't supping, and you get methylation moving, you can end up deficient very quickly (DS ran low on mag and zinc, even on supps).
post #242 of 307
mamafish, I love watching your brain work this out! It is amazing.

Pat
post #243 of 307
Thread Starter 
Quote:
Originally Posted by WuWei View Post
mamafish, I love watching your brain work this out! It is amazing.

Pat
I wish it didn't hurt my brain so much
post #244 of 307
Quote:
Originally Posted by mamafish9 View Post
I wish it didn't hurt my brain so much
It hurts my brain, that is why I'm watching!


Pat
post #245 of 307
Quote:
mamafish9;15610387]
It's way complicated. One thing I do know though is that Yasko ignores B12 "deficiency/too high" levels. She wants B12 byproducts sky high in pee, so I assume she wants them sky high in blood too. It's the one thing she uses very high doses for. She suggests everyone start with hydroxy, it's the best accepted, and then you will know the reaction you are seeing is to the B12 (so likely detox), rather than to the methyl groups. DS had pretty strong reactions to the hydroxy B12 at first. DH can't handle a single drop, gets a migraine (so for him we dilute in water and give a partial dose). Adults tend to have longer reactions, particularly to the core mehtylation supps (folate, B12).

Well I yanked the methyl b-12 for DS the last few days altogether and he is calmer. When I get the hydroxy I will try that and see how it goes. For DS its not the folate, because I have upped the thornes to 4 of the 6 and he seems ok. It was the methyl b12 (or maybe just b12 in general...have to try the hydroxy and see if I get the same reaction). If hydroxy is better than is it better to stick with that always, or is the goal to transition to the methyl once everything is unclogged?? If it turns out to be b12 in general than what is one to do? Just not supp the b12 at all or do very tiny doses?

As for me...the headaches turned out to be sinus related, something I always struggle with. Still not sure how it may or may not tie into all this. I'm still taking the methyl b12 (1mg ) myself.
post #246 of 307
Thread Starter 
Quote:
Originally Posted by Marnica View Post
Well I yanked the methyl b-12 for DS the last few days altogether and he is calmer. When I get the hydroxy I will try that and see how it goes. For DS its not the folate, because I have upped the thornes to 4 of the 6 and he seems ok. It was the methyl b12 (or maybe just b12 in general...have to try the hydroxy and see if I get the same reaction). If hydroxy is better than is it better to stick with that always, or is the goal to transition to the methyl once everything is unclogged?? If it turns out to be b12 in general than what is one to do? Just not supp the b12 at all or do very tiny doses?

As for me...the headaches turned out to be sinus related, something I always struggle with. Still not sure how it may or may not tie into all this. I'm still taking the methyl b12 (1mg ) myself.
If hydroxy works better, stick with that. If hydroxy causes the same reaction as the methyl, assume B12 is something he needs, but causes lots of reaction - so add SLOWLY. DS reacted to slow increases up to about 5mg, since then it's been easy to add. You can dilute the hydroxy drops in water to get a smaller dose, and give frequently through the day.
post #247 of 307
Quote:
Originally Posted by mamafish9 View Post
If hydroxy works better, stick with that. If hydroxy causes the same reaction as the methyl, assume B12 is something he needs, but causes lots of reaction - so add SLOWLY. DS reacted to slow increases up to about 5mg, since then it's been easy to add. You can dilute the hydroxy drops in water to get a smaller dose, and give frequently through the day.
Gave him his first hydroxy drop (1mg) this am...will see how this goes.
If a reaction ensues and it is b12 in general, I will go very slowly, but should I go back to the methyl since it is more readily absorbed or stick with the hydroxy or doesn't it matter?
post #248 of 307
Thread Starter 
Quote:
Originally Posted by Marnica View Post
Gave him his first hydroxy drop (1mg) this am...will see how this goes.
If a reaction ensues and it is b12 in general, I will go very slowly, but should I go back to the methyl since it is more readily absorbed or stick with the hydroxy or doesn't it matter?
Hydroxy at first, that is fine for all genetics. Once you get him up to 3-4 drops of hydroxy with no issues, you can try some methyl again and see how he reacts.
post #249 of 307
Can the Yasko experts here interpret the following results?

COMT V158M -/- G
COMT H62H -/- C
COMT 61 -/- G
VDR Taq +/- Hetero
VDR Fok +/- Hetero
MAO A R297R +/- Hetero
ACAT 1-02 +/- Hetero
ACE Del16 +/+ DELETION

MTHFR C677T -/- C
MTHFR 3 -/- C
MTHFR A1298C +/- Hetero
MTR A2756G +/- Hetero

MTRR A66G -/- A
MTRR H595Y -/- C
MTRR K350A -/- A
MTRR R415T +/- Hetero
MTRR S257T -/- T
MTRR 11 -/- G
BHMT 1 -/- A
BHMT 2 +/- Hetero
BHMT 4 +/- Hetero
BHMT 8 +/- Hetero

AHCY 1 -/- A
AHCY 2 -/- T
AHCY 19 -/- A
CBS C699T -/- C
CBS A360A +/- Hetero
SUOX S370S -/- No Support Needed
SHMT C1420T -/- G
NOS D298E +/- Hetero
post #250 of 307
Thread Starter 
Short version for tonight:

COMT-- = needs lots of methyl groups. So methyl B12 is a very good thing. SAMe and DMG would be two others to consider adding.

VDR Taq and Fok = needs more vitamin D than most people. For the Fok one, pancreatic supports (glandulars, pancreatic digestive enzymes, K2).

Mao +- = don't worry overly much about this, it's a bigger deal with ++. Sometimes can lead to swingy serotonin or aggression. Combined with COMT--, could equal low melatonin and poor sleep (hard to get to sleep and stay asleep). More methyl groups should fix (serotonin needs a methyl group added to make melatonin).

ACE++ = anxiety often (higher baseline stress level). Adrenal & kidney support (I do 1/3 adrenal and 1/3 kidney glandular daily for DS).

ACAT +- = trouble digesting and metabolizing fats. Cheap solution is pancreatic digestive enzymes + pine nut oil + bile salts. Working really well for my son, he has this mutation. I think DH and DDs hare the mutation, for him it = floating poop, keratosis pilaris (bumps on arms), cradle cap and crazy fast growing nails for DD.

MTHF A1298C = can be issues with BH4 levels. Liver support is good (liver glandulars, milk thistle, dandelion root).

MTR, MTRR = need more B12 than most people. The tough one here is the R415T one - that means needs a LOT more B12. And methyl is mostly the right form for her, or a mix of hydroxy and methyl (I really like Yasko's mega drops, definitely the cheapest source of effective B12 when you need large doses). This is the perfect genetic profile of someone who would eventually benefit from methyl B12 shots (the kind you do every few days at home). Work up the oral/sublingual dose first though.

BHMT - 2 and 4 cancel each other out. 8 +- is not too bad, but DMG would probably be a good supp to consider adding if there are any attention/focus issues (and only after you have a good amount of B12 in place first).

CBS +- = this is the more minor CBS mutation, and with only one copy, I'd ignore this.

NOS +- = sometimes issues processing ammonia, and can end up with low BH4 (especially in combo with MTHF A1298C). Liver and kidney glandulars are helpful here, or other liver/kidney supports, like dandelion root.

First steps I'd take (without remembering more about your daughter - if you post some details about her, I may have some thoughts to add): Get D, K2, and some organ supports in place. Then start adding methyl B12, one drop at a time (work up to 6-8 adding 1 drop a week, slower if you get big reactions. Spread out from waking to about 3-4pm). Once B12 is going OK, add stronger digestive supports - pancreatic enzymes, bile salts, and pine nut oil (one at a time, and slowly!). Once that's all in place, add some DMG and/or some SAMe.
post #251 of 307
Quote:
Originally Posted by mamafish9 View Post

ACAT +- = trouble digesting and metabolizing fats. Cheap solution is pancreatic digestive enzymes + pine nut oil + bile salts. Working really well for my son, he has this mutation. I think DH and DDs hare the mutation, for him it = floating poop, keratosis pilaris (bumps on arms), cradle cap and crazy fast growing nails for DD.
Wait, there is a gene for crazy growing nails? My DDs nail grow freakishly fast. And I think she has trouble with fats. I think your DDs are my DD's twin. Trouble with stools, floating poop, really bad cradle cap & the nails. Oh, the nails.

What are bile salts.
post #252 of 307
Thank you! :
That's incredibly helpful.

Because DD has the MTHFR 1298C and the ACAT mutations and because she's female, does this mean that she'll have a greater tendency for dysbiotic problems like strep, aluminum especially with the CBS and NOS generating some ammonia. This can play havoc with gut flora, right?


Quote:
Originally Posted by mamafish9 View Post
Short version for tonight:

COMT-- = needs lots of methyl groups. So methyl B12 is a very good thing. SAMe and DMG would be two others to consider adding.
We have her on MB12 shots. She also has a Vitamin B cream available by script. I'll continue those. I had given her DMG a long time ago, but dropped it. I added it back in today. I'll get SAMe.
Quote:
Originally Posted by mamafish9 View Post
VDR Taq and Fok = needs more vitamin D than most people. For the Fok one, pancreatic supports (glandulars, pancreatic digestive enzymes, K2).
She's on digestive enzymes and they have been really helpful to her. We'll continue that. I take them as well so does my mom. I can guess where DD got this mutation from. Is Vitamin K2 something I can get from Yasko or is there a good but more affordable source of K2?
Quote:
Originally Posted by mamafish9 View Post
Mao +- = don't worry overly much about this, it's a bigger deal with ++. Sometimes can lead to swingy serotonin or aggression. Combined with COMT--, could equal low melatonin and poor sleep (hard to get to sleep and stay asleep). More methyl groups should fix (serotonin needs a methyl group added to make melatonin).
That's interesting. DD has slept well from the time she was old enough to sleep through the night. She's also a passive child. We've had to teach her to talk back to other kids and defend herself.
Quote:
Originally Posted by mamafish9 View Post
ACE++ = anxiety often (higher baseline stress level). Adrenal & kidney support (I do 1/3 adrenal and 1/3 kidney glandular daily for DS).
This is DD! She has anxiety. Does this have to be Yasko adrenal and kidney glandular? Can I get it from somewhere else?
Quote:
Originally Posted by mamafish9 View Post
ACAT +- = trouble digesting and metabolizing fats. Cheap solution is pancreatic digestive enzymes + pine nut oil + bile salts. Working really well for my son, he has this mutation. I think DH and DDs hare the mutation, for him it = floating poop, keratosis pilaris (bumps on arms), cradle cap and crazy fast growing nails for DD.
This fits too. She has fast growing nails. She has KP and so do I. I've found Omega 3 fatty acids with digestive enzymes help her a lot. I'll look at pine nut oil and bile salts. Do those taste bad?
Quote:
Originally Posted by mamafish9 View Post
MTHF A1298C = can be issues with BH4 levels. Liver support is good (liver glandulars, milk thistle, dandelion root).
I'll add more milk thistle and liver glandulars.
Quote:
Originally Posted by mamafish9 View Post

MTR, MTRR = need more B12 than most people. The tough one here is the R415T one - that means needs a LOT more B12. And methyl is mostly the right form for her, or a mix of hydroxy and methyl (I really like Yasko's mega drops, definitely the cheapest source of effective B12 when you need large doses). This is the perfect genetic profile of someone who would eventually benefit from methyl B12 shots (the kind you do every few days at home). Work up the oral/sublingual dose first though.
I'll get the Yasko mega drops. We're already doing the MB12 shots. I'll continue that as well.
Quote:
Originally Posted by mamafish9 View Post
BHMT - 2 and 4 cancel each other out. 8 +- is not too bad, but DMG would probably be a good supp to consider adding if there are any attention/focus issues (and only after you have a good amount of B12 in place first).
We have DMG at home so I added it today. Attention/focus are HUGE issues for her.
post #253 of 307
Thread Starter 
Quote:
Originally Posted by chlobo View Post
Wait, there is a gene for crazy growing nails? My DDs nail grow freakishly fast. And I think she has trouble with fats. I think your DDs are my DD's twin. Trouble with stools, floating poop, really bad cradle cap & the nails. Oh, the nails.

What are bile salts.
Yup, that's likely ACAT+, weren't you ACAT +-? For DD, I gave her 1 of the Yasko ACAT compounded supps (a full dose is 6). One cured all those symptoms, along with pancreatic enzymes. Now I'm trying to replace the ACAT supp with bile salts, PNO, and pancreatic glandular, and it seems to be working fine. I use these bile salts, 1/3 a day for DD (I mix it in with some other stuff and she gets one mixed capsule each meal). You could just try the PNO first, and see if her poop stops floating.

Quote:
Originally Posted by BookGoddess View Post
Thank you! :
That's incredibly helpful.

Because DD has the MTHFR 1298C and the ACAT mutations and because she's female, does this mean that she'll have a greater tendency for dysbiotic problems like strep, aluminum especially with the CBS and NOS generating some ammonia. This can play havoc with gut flora, right?

It can, but she doesn't have the biggest genetics for bad gut issues (her CBS is pretty minor, she has no SHMT or ACHY mutations). However, DS doesn't really have the genetics for gut issues as well, but he had some, and the pancreatic enzymes did a huge clean up, I think his gut is pretty good right now.


We have her on MB12 shots. She also has a Vitamin B cream available by script. I'll continue those. I had given her DMG a long time ago, but dropped it. I added it back in today. I'll get SAMe.

[COLOR="rgb(65, 105, 225)"]How frequent are her MB12 shots? Does she do better on days she gets them, or the day after?[/COLOR]

She's on digestive enzymes and they have been really helpful to her. We'll continue that. I take them as well so does my mom. I can guess where DD got this mutation from. Is Vitamin K2 something I can get from Yasko or is there a good but more affordable source of K2?

[COLOR="rgb(65, 105, 225)"]I use the Thorne K2 drops - the bottle isn't cheap, but it lasts forever. And sounds like you should take them too . You might try some pancreatic enzymes - my son also benefited from digestive enzymes, but the pancreatic ones were incredibly more effective for him (you could try adding a bit and seeing what happens).[/COLOR]

That's interesting. DD has slept well from the time she was old enough to sleep through the night. She's also a passive child. We've had to teach her to talk back to other kids and defend herself.

[COLOR="rgb(65, 105, 225)"]That's not the signs of issues with MAO+, so I'd ignore that mutation. If you ever see unusual aggression, it might be you've done something to trigger more of that (happens with DS when he gets really, really stressed).[/COLOR]

This is DD! She has anxiety. Does this have to be Yasko adrenal and kidney glandular? Can I get it from somewhere else?

[COLOR="rgb(65, 105, 225)"]Anywhere - I use Nutricology adrenal from iherb. They don't make a kidney one though, so that I get from Yasko. There are some other things to try for anxiety once you have those in place, if it's still an issue.[/COLOR]

This fits too. She has fast growing nails. She has KP and so do I. I've found Omega 3 fatty acids with digestive enzymes help her a lot. I'll look at pine nut oil and bile salts. Do those taste bad?

[COLOR="rgb(65, 105, 225)"]Pine nut oil is very mild. Haven't tried bile salts, but betcha they don't taste good. [/COLOR]

I'll add more milk thistle and liver glandulars.


I'll get the Yasko mega drops. We're already doing the MB12 shots. I'll continue that as well.


We have DMG at home so I added it today. Attention/focus are HUGE issues for her.
See what happens with the DMG for attention/focus - again, there are more things to try there, but get the basics in place first.
post #254 of 307
Can we talk ACAT?

It's not one of the ones that I was able to map to 23andme, but I just looked it up, and if it's the ACAT1 gene (which I'm assuming, since Yasko calls it ACAT 1-02), there are only 3 options in 23andme: rs3741049, rs10890819 and rs11212525.

Are there any tests for the non-genetic testing folk? Is it an easy one to just add in support and see results or not?

eta: from earlier in this thread, it looks like A is + and G is -, so that rules out the last of those three.
post #255 of 307
Thread Starter 
Some people see fatty acid imbalances on stool tests, or markers for out of whack fatty acid metabolism on a MAP test. DS didn't have any of those, but he was still nursing a lot when we did the comprehensive round of tests, so guessing he got plenty of fat his body could handle that way.

For my daughter, pancreatic enzymes didn't make a huge difference - adding in more ACAT supports did, although it took a month to be sure we were seeing differences. I suspect DH carries the ACAT mutation and both kids got it. From what I've seen, it can show up lots of different ways - in our family, it seems to be fat digestion that is the primary issue, for others, there are also big issues with fat metabolism. Guessing it depends on how this gene interacts with other mutations - for example, mitochondrial issues are common for ASD kids, and there could be interactions there. So my family benefits from the 1/2 of the Yasko ACAT supps list that relates to digestion, but not the 1/2 that relates to fatty acid metabolism.

However, the 3 people in my family I suspect have this mutation all have very different symptoms that cleared up - gut issues & digestion for DS; cradle cap, KP, growth for DD; KP, floating poop, migraines for DH. And I think they all probably have the VDR mutations as well, which inter-relate. I'm also hoping it's related to DD's crappy teeth (poor fat soluble vitamin absorption).

Given how you're reacting to pine nut oil, it's not a huge stretch to wonder if this might be an issue for you.
post #256 of 307
Quote:
Originally Posted by mamafish9 View Post
Some people see fatty acid imbalances on stool tests, or markers for out of whack fatty acid metabolism on a MAP test. DS didn't have any of those, but he was still nursing a lot when we did the comprehensive round of tests, so guessing he got plenty of fat his body could handle that way.

For my daughter, pancreatic enzymes didn't make a huge difference - adding in more ACAT supports did, although it took a month to be sure we were seeing differences. I suspect DH carries the ACAT mutation and both kids got it. From what I've seen, it can show up lots of different ways - in our family, it seems to be fat digestion that is the primary issue, for others, there are also big issues with fat metabolism. Guessing it depends on how this gene interacts with other mutations - for example, mitochondrial issues are common for ASD kids, and there could be interactions there. So my family benefits from the 1/2 of the Yasko ACAT supps list that relates to digestion, but not the 1/2 that relates to fatty acid metabolism.

However, the 3 people in my family I suspect have this mutation all have very different symptoms that cleared up - gut issues & digestion for DS; cradle cap, KP, growth for DD; KP, floating poop, migraines for DH. And I think they all probably have the VDR mutations as well, which inter-relate. I'm also hoping it's related to DD's crappy teeth (poor fat soluble vitamin absorption).

Given how you're reacting to pine nut oil, it's not a huge stretch to wonder if this might be an issue for you.
So besides a MAP, what sorts of things would you look for with fat metabolism issues?

For your dd, if the enzymes weren't making a big difference, and now you've reduced it all to enzymes, PNO and ox bile (right?), what do you think is the biggest factor?

And something that's nagging me, if bile is one major detox route, then taking bile as a supp kinda worries me. Not as much for what ox toxins might be in the bile, but does that mean you're not excreting as many toxins yourself?
post #257 of 307
Thread Starter 
I thought you all might be interested in what we learned from DS' latest UAA (urine amino acids test). He's lately been more stimmy and not going to sleep easily, and I figured it might be glutamates - Yasko says those tend to get higher in summer and with detox, and we've been dealing with both.

The previous test was 4 months ago, before we started any Yasko stuff. He was on a pretty good set of vitamins and minerals, and we had been using zeolite for about a year to gently pull metals.

Big things from this test:

- he's digesting protein WAY better. Most amino acids are now in normal ranges (and the ones that aren't, it isn't protein digestion that's the problem, I know what is causing those imbalances). He's probably eating less protein most days than he used to, and yet the last test, almost all amino acids were very low. So, that's exciting.

- methylation appears to be doing well (this isn't the best test to check that, but the indicators that are in this one are all good). So maybe we are actually getting enough B12 into him.

- glutamates were very LOW. Yeah. Oops! GABA is normal, same as last test. Glutamates were a little high last test, they are red low now. So the good news is, Yasko's supps to control glutamates work great, LOL. We weren't at very high doses, but I just cut them in half. Some glutamates are necessary (for things like language, our big focus at the moment). As far as I can tell, I'm the only person in the history of Yasko to have a low glutamates ASD kid. Gee, what a surprise, my kid doesn't fit the norms .

- ammonia is high, so is taurine. Meaning, his CBS+ is actually a factor, now that he is digesting protein (Tanya & Shannon, thought this might be relevant for you). He went from red low on ammonia last test to halfway up yellow high this time, that's a huge swing in 4 months. Yasko's solution is a low protein diet. Not going there, so trying some other stuff. I've added alpha ketoglutarate back in - it's great at eating ammonia, although it can produce glutamates in the process. Oddly, for us, at the moment, that would be fine. I'm increasing curcumin - that's what Yasko uses to push cysteine towards producing glutathione, rather than taurine.

- urea cycle is schmucked. The urea cycle has to handle ammonia, and DS has the NOS+ mutation, which slows down his ability to do that. There is another urea cycle enzyme, OTC, that is apparently the most common urea cycle mutation (Yasko doesn't test for it). Now that we're putting enough ammonia into DS' urea cycle, he has the biomarkers for the OTC mutation as well.

So there are two routes to process ammonia, and both his are slow. And he has genetics that tend to overproduce ammonia. Now that he's digesting protein, we're seeing those impacts. Which means we're joining the party of those of you trying to find the ammonia/protein balance. I've also done the following for the ammonia:

1) AKG, as mentioned above, to eat ammonia directly. Bigger dose now, hoping I can reduce to maintenance levels shortly.
2) Citrulline. His urea cycle gets stuck in two places, and he ends up with low citrulline (which is one of the amino acids that deals with ammonia). So supping cutrulline can end run around his urea cycle mutations. His test showed very low citrulline, but I'm guessing this is a decent thing to try if you think you're dealing with ammonia, even without testing.
3) Liver support (urea cycle takes place mostly in the liver). I've increased him from 1/2 to 1 whole liver glandular a day.
post #258 of 307
Very interesting. I won't tell you how many times I hit Refresh since reading in the Chat thread that you were going to update over here. But I'm caught up on everything I need to do for now, so what can I say, I'm doing a lot of lurking on MDC.

Can you detail the glutamate supps and dosages you were using in this time period?

I'm still in the survive-the-summer-travel phase... but DD hasn't had a nosebleed in a while, and actually I'm not sure she's had a headache since we've been here... maybe 1? Not sure where that will fall out for her, I think I need another month to start a good schedule/meal plan at home and then see what happens.

Will be waiting with baited breath to see how the ammonia issue goes for you. And dang but you seem to have piles upon heaps of inconvenient genetics to work around. If 23andme goes on sale, I'd like to have us tested, but I think we're only going to find a few less-than-optimal genes.
post #259 of 307
Thread Starter 
Yeah, he's my fun genes guy .

What we were on when we tested:

1/2 gaba/day
1 valerian root (contains natural gaba)
1/2 jujube (this is supposed to help with gaba receptors)
1 grapeseed extract
1/2 pycnogenol

I left the gaba stuff alone, backed off to 1/2 grapeseed extract, and 1/6 pycnogenol (I do 6 day mixes, so that happened to be convenient).

We'll likely re-run this test along with the MAP in a couple of months, so I'll know for sure how we're doing then. But if his stimminess is ammonia related, we should see positive impact from the AKG in a few days. I've used it before, very successfully, the one time he had high ammonia in the past. The good news with an autistic kids is behavioral reactions are often extremely clear, so you aren't really guessing on whether you're getting improvements or not.

Yasko recs charcoal flushes for ammonia. I tried one of those earlier in the summer, zero impact, so I figured it wasn't ammonia we were dealing with. Maybe they just don't work for him, who knows.
post #260 of 307
Yeah, very interesting! And I did my share of refreshing my email
too

The stimming is likely ammonia, no?

Is there any reason you're blaming CBS for the increased ammonia and not just overshooting his protein? Another option would be to limit animal protein, I'd think - it's methionine that's broken down in transsulfuration, and that's one that keeps beans from being a complete protein.

Watermelon (rind) is high in citrulline.

I was just at the dr yesterday. Now I'm wishing I'd asked for my ammonia to be checked. Darn.
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