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How to detox with this profile?

Messages
60
I have a detox profile from genetic genie, but it does not offer advice on how to proceed. Does anyone have any advice? This is for an ill 62lb eleven year old child. Thank you very much in advance!!

CYP1A1*2CA4889G +/-
CYP1A2 164A>C +/-
CYP1B1 L432V +/+
CYP1B1 N453S +/+
CYP2D6 S486T +/-
CYP2D6 100C>T +/-
CYP2D6 2850C>T +/-
GSTP1 I105V +/-
NAT2 I114T +/-
NAT2 R197Q +/-

Here are her lab levels so far (I have a ton of results, but not all are relevant):

taurine 129 reference of 156-535
ammonia 81 reference of 19-87
Dopamine 215 reference of 106-191
Norepinephrine 87 reference of 28-51
Serotonine 172 reference of 99-203
GABA 10 reference of 3.9-7.9
Glycine 1114 reference of 441-1258
Glutamate 59 reference of 13.5-36.8
Histamine 31 reference of 10-32
PEA 27 reference of 29-83
Epinephrine 11 reference of 7.1-13.6

I will be testing her sulfites soon, but do not know them at this time.

I think I have the supps down for this part, but if you want to comment on it feel free :)

COMT V158M +/-
COMT H62H +/-
VDR BSM +/+
MTHFR 03 P39H +/-
MTHFR A1298C +/-
MTRR A66G +/-
MTRR A664A +/+
BHMT-08 +/-
CBS C699T +/-
CBS A360A +/-
SHMT1 C14201T +/-


She is already on an Alive Max Potency Multivitamin that has high B vitamins in it. Here is what I am adding based on the results:


* B-2 25mg qd
* Co Q-10 100mg qd
* Yucca root 500mg bid
* L-carnitine 250mg qd
* Molybdenum 75mg bid
* Boron 3mg qd
* Vitamin E 400mg qd
* Lecithin 1200mg qd (phosphatidylcholine 168mg)
* Hydroxy b-12 patches 5mg (likely cut in half, will have to tinker with it)
* Methyl folate 250mg
 

greenshots

Senior Member
Messages
399
Location
California
I know there aren't many docs in this field but with a child, I wouldn't try all this on your own. I'm an ICU nurse and felt really good about my baseline knowledge but I still needed alotta help recovering my kids. The ups and downs were scary and I always second guessed myself until I had my doc on board. I think my doc is still closed but is keeping a list or something but Dr. Usman is pretty good with kids and methylation.
 

caledonia

Senior Member
I suggest stopping the multivitamin. It has synthetic folic acid in it - a no-no for those with MTHFR mutations. It also has too much B6 for those with CBS mutations. Yasko has a good B Complex which is low in B6.

Her glutamate is high. Yasko would have her work on getting glutamate and GABA in balance first. Then SHMT, then CBS. Then she can get into heart of it, which is B12 and folate.

You have to take things one at a time in a certain order. I would not pile all those supplements on her at one time, and not start with full doses either.

With that COMT mutation, Yasko suggests hydroxycobalamin and adenosylcobalamin, and avoiding methylcobalamin.

If that vitamin E is for CBS, it should be Vitamin E Succinate (Dry E).

You might find some help at Yasko's board. There are lots of mom working with autistic kids over there.
 
Messages
60
I know there aren't many docs in this field but with a child, I wouldn't try all this on your own. I'm an ICU nurse and felt really good about my baseline knowledge but I still needed alotta help recovering my kids. The ups and downs were scary and I always second guessed myself until I had my doc on board. I think my doc is still closed but is keeping a list or something but Dr. Usman is pretty good with kids and methylation.

We have an immuno on board who specializes in autism. He is eager to see her results, but will be out of country for a month. Her next appt is right after he gets back in town.
 
Messages
60
I suggest stopping the multivitamin. It has synthetic folic acid in it - a no-no for those with MTHFR mutations. It also has too much B6 for those with CBS mutations. Yasko has a good B Complex which is low in B6.

Her glutamate is high. Yasko would have her work on getting glutamate and GABA in balance first. Then SHMT, then CBS. Then she can get into heart of it, which is B12 and folate.

You have to take things one at a time in a certain order. I would not pile all those supplements on her at one time, and not start with full doses either.

With that COMT mutation, Yasko suggests hydroxycobalamin and adenosylcobalamin, and avoiding methylcobalamin.

If that vitamin E is for CBS, it should be Vitamin E Succinate (Dry E).

You might find some help at Yasko's board. There are lots of mom working with autistic kids over there.


I had a whole post, and it was eaten by the cybermonster :(. I doubt I will remember it all.

Her immuno thinks her GABA and glutamate are balanced but high. What defines them as out of balance? I have not researched this yet.

He is hoping to balance all her nuerotransmitter profile with 5-HTP and taurine. She should be able to take one or two sulfur supps since she is +/- and if I watch her sulfate/sulfite food intake.

Her b-6 is high, but immuno is happy with it since she is autistic. He also would love it if I would add b-6 50mg per day, but I am holding off since other more important stuff is being added now.

I will look into the E and I am looking for another organic super B, but have not found one I am happy with yet.

We will using the hydroxycobalamin patches and alternating when I can. We are not using methylcobalamin.

I am adding things in very slowly so I can see how she reacts. I need to know what is working, what is not working and if she reacts well or badly to each one.

Thanks!!!
 
Messages
60
Oh, we did the OAT, and porphyrins test. No heavy metals, and her gut is in pretty good shape (been working on that for over 6 months already). A couple of slightly high bacterial markers. She is already on a abx combo for a while for another condition. She has also been on a 30 billion 8 strain probiotic, prebitoics and Sacharomyces Boulardii & MOS for 3-6 months. We have been drinking home made milk kefir and home made yogurt for 6 or so weeks as well. So, I am guessing her SHMT mutation was addressed before we even knew she had it.

Her taurine is already below reference, and her histamine and ammonia are not out of range. I still need to test her sulfites. She is already getting manganese and 50mg molybdenum for over a year. She is self regulated to a low protein diet. I am making diet changes as we speak for the sulfites. She is already on lecithin. Her copper and her zinc levels are both right about in the middle of reference. The molybdenum picolate low, low dose (maybe 25mcg at most) is the next add on. I believe that will take care of the CBS.

Thanks for all the input.
 

caledonia

Senior Member
Her immuno thinks her GABA and glutamate are balanced but high. What defines them as out of balance? I have not researched this yet.

If the ratio of glutamate to GABA is high then they're out of balance. It's hard to tell from your numbers alone because you have to graph them in the same proportion. But the extremely high glutamate (almost double the highest normal value!) was what caught my attention. With the high GABA to compensate, maybe it's not as bad as I was thinking.

On my Nutreval test, my glutamate was high normal, but my GABA was below detection limit (even though I was supplementing with GABA at the time).

Another clue would be does she have anxiety or seem overstimulated?
 

caledonia

Senior Member
He is hoping to balance all her nuerotransmitter profile with 5-HTP and taurine. She should be able to take one or two sulfur supps since she is +/- and if I watch her sulfate/sulfite food intake.

Taurine is actually ok to take even with an expressed CBS. The reason is that it doesn't contain free thiols, which is the really important component. I was taking quite a large amount of taurine all through my CBS protocol, and it still worked.
 
Messages
60
If the ratio of glutamate to GABA is high then they're out of balance. It's hard to tell from your numbers alone because you have to graph them in the same proportion. But the extremely high glutamate (almost double the highest normal value!) was what caught my attention. With the high GABA to compensate, maybe it's not as bad as I was thinking.

On my Nutreval test, my glutamate was high normal, but my GABA was below detection limit (even though I was supplementing with GABA at the time).

Another clue would be does she have anxiety or seem overstimulated?

Yeah, the impression I got was that one is usually very high while the other is very low. Hers are both high, but balanced. From what I read the taurine may lower her levels some. The 5-HTP is supposed to increase her serotonine which in turn should decrease her norephinerine, which is quite high too. I am going to be asking about the low PEA levels at her next appt too, since those are not yet being addressed. Yes, she is is anxious, but she has numerous medical conditions that have a profile of anxiety (PANDAS, OCD, Autism, hypothyroid) AND her neurotransmiters are a all a bit out of whack.

Hopefully, with treating with conditions and the transmitters simultaneously will help her a great deal. Thanks for all the input!
 
Messages
60
It seems resveratrol could be useful for "bypassing" some detoxification enzymes,as LaurieL said. Yasko has it among her countless list of supplements. http://www.ncbi.nlm.nih.gov/pubmed/20716633 It also helps with glutamate: http://www.ncbi.nlm.nih.gov/pubmed/17554623. It also can start lowering cortisol at high doses, so that isnt cool, at least for adrenally fatigued me hehe.


I heard about this years supp years ago, but I have not research it lately. Thanks for the links, I will read them soon!
 

LaurieL

Senior Member
Messages
447
Location
Midwest
Slicky said...
This is for an ill 62lb eleven year old child.

Male or female?

Caledonia said...
I suggest stopping the multivitamin. It has synthetic folic acid in it - a no-no for those with MTHFR mutations. It also has too much B6 for those with CBS mutations. Yasko has a good B Complex which is low in B6.

I second this.

Slicky said...
A couple of slightly high bacterial markers.

Specifically which ones? Posting the OAT results would be helpful as well.

Slicky said...
Her taurine is already below reference, and her histamine and ammonia are not out of range.

If the childs ammonia is not elevated, why are you adding Yucca? I would be very careful when giving Yucca to children, as it can result in hypoglycemia. My impression is that there was once an ammonia issue? Hence the low protein diet?

Beyond said...
It seems resveratrol could be useful for "bypassing" some detoxification enzymes,as @LaurieL said. Yasko has it among her countless list of supplements. http://www.ncbi.nlm.nih.gov/pubmed/20716633 It also helps with glutamate:http://www.ncbi.nlm.nih.gov/pubmed/17554623. It also can start lowering cortisol at high doses, so that isnt cool, at least for adrenally fatigued me

I have all her information written down. I have only questions at this point, and children are quite a different matter than adults, with herbs or vitamins, or meds. And sex of the child does matter as well. They are not little adults, some parts of their immune system are not fully developed, as well as other considerations in development. Some of the high doses I have read, I wouldn't even attempt to take myself. In saying so, I am airing a very compassionate concern only.

Thanks for tagging me, or I might not have read this thread for awhile.

I also second the advice of going to join Dr. Yasko's forum as well as this one. There are soooo many knowledgable mothers in which can offer you similar experiences in order to compare. Which is so very important in our children.

LaurieL
 
Messages
60
Slicky said...


Male or female?

Caledonia said...


I second this.

Slicky said...


Specifically which ones? Posting the OAT results would be helpful as well.

Slicky said...


If the childs ammonia is not elevated, why are you adding Yucca? I would be very careful when giving Yucca to children, as it can result in hypoglycemia. My impression is that there was once an ammonia issue? Hence the low protein diet?

Beyond said...


I have all her information written down. I have only questions at this point, and children are quite a different matter than adults, with herbs or vitamins, or meds. And sex of the child does matter as well. They are not little adults, some parts of their immune system are not fully developed, as well as other considerations in development. Some of the high doses I have read, I wouldn't even attempt to take myself. In saying so, I am airing a very compassionate concern only.

Thanks for tagging me, or I might not have read this thread for awhile.

I also second the advice of going to join Dr. Yasko's forum as well as this one. There are soooo many knowledgable mothers in which can offer you similar experiences in order to compare. Which is so very important in our children.

LaurieL

Female.

I will try to post OAT results tomorrow. Besides bacterial markers what else would be helpful? The bacterial markers are:

4-hydroxyphenylacetic 40 reference 30
4-hydroxyhippuric 36 reference 27
succinic 42 reference 15 Her B-2 is quite low, so we started supplementing that.
DHPPA 1.9 reference 0.73

The ammonia, while not out of range is on the very high end of normal. It seems I read it needs to be lower for her SNPs. She eats a low protein diet mainly because she does not seem to like meat much. I have, in the past, enforced eating some meat. Now with these results, I no longer enforce it the last week or so. We are going to have to make dietary changes to adjust for her results.

Last doc appt she was diagnosed with primary immune deficiencies and she has had a current autoimmune disorder (PANDAS) for the last 18 months.

Thanks for looking it over and your input!
 
Messages
60
I have tried to get on Dr. Yasko's board, but every time I try, it says it is currently unavailable. Please try again later. I will keep trying every now and then. Anyone know if it is Browser specific? I do not typically use IE, so maybe that is the problem.
 

Beyond

Juice Me Up, Scotty!!!
Messages
1,122
Location
Murcia, Spain
I use Google Chrome and can access perfectly! Although its of not much use since we play in different leagues :thumbdown: , they reccommend tests and supplements in quantities and frequencies I cant afford. But I understand an autistic kid its a complex scenario and those are necessary. And the people there are definetely useful, they reccomended me earthing for sleep among other things.
 

LaurieL

Senior Member
Messages
447
Location
Midwest
Slicky,

Yasko is also on yahoo groups as well. I believe Yasko's personal board is no longer running, and so many are at yahoo groups. In your address bar on top, type in yahoo groups. This will take you to yahoo groups info. Click on link, and then in the yahoo groups address bar, type in Yasko. You will see a list, I am a member of Yasko/CFS. There is one board from the bay area in which moms with Autistics is quite informational. There are others as well. You can find those by typing in autism in the yahoo groups address bar. Of course, we like you here as well. :)
 

Beyond

Juice Me Up, Scotty!!!
Messages
1,122
Location
Murcia, Spain
Yeah could be. I have just got inside and the forum its working. Hope you can post there soon. In case it takes too long I can give you my account.
 
Messages
60
Slicky,

Yasko is also on yahoo groups as well. I believe Yasko's personal board is no longer running, and so many are at yahoo groups. In your address bar on top, type in yahoo groups. This will take you to yahoo groups info. Click on link, and then in the yahoo groups address bar, type in Yasko. You will see a list, I am a member of Yasko/CFS. There is one board from the bay area in which moms with Autistics is quite informational. There are others as well. You can find those by typing in autism in the yahoo groups address bar. Of course, we like you here as well. :)

Thanks. Her main issue is really not her autism, odd I know. She is only mildly autistic, but of course, any improvements geared toward a successful future for her would be welcomed. Her main issue is PANDAS, Primary Immunodeficiency, Hypothyroidism, and her many high viral titers (rubella, EBV, HHV-6). Those are the issues affecting her ability to function well right now. I am working with her doc for those issues, but of course anything I can do to mitigate her SNP mutations will likely help all her bodily systems, thus helping those issues as well.

She has almost no energy to do much at the age of eleven, and becomes ill with common colds, strep, etc.....more often than she should. We live on a small farm and have a pool, and these last eighteen months she would rather sit on the couch and read or play PS2 games than go outside with the bugs, pool, garden and animals. This is so uncharacteristic for her!

Thanks again for taking the time to read and your input!
 
Messages
60
Yeah could be. I have just got inside and the forum its working. Hope you can post there soon. In case it takes too long I can give you my account.

That is an amazingly kind offer. I am going to check out the yahoo avenue that LaurieL mentioned. I bet this is more a "user interface error", than a "board error" :D. In other words, I am doing something wrong LOL.

Can you post the URL you use? That would likely save a bit of time in searching for a yahoo board. Thank you for time, effort and kindness :).