MTHFR and CBS and BH4

August 27, 2006

Hi Rich, Do Sciona tests make sense after learning more about Yasko? These

were in heart panel.

Well it looks site doesn't sell separate panels now. Kathy

Sciona tests for MTHFR A1298C (I'm A/C) and CBS C699T (CC). Is this one of

the right CBS tests? Does this combination mean there are ammonia issues?

would BH4 be good for my case?

Where do you get BH4? Has anyone tried it? I don't eat high amounts of

protein. Have been having gas from spirulina, no problems other vegs. On my

old amino acid test phenanyl... and tyrosine both look mid range, tyrosine a

little lower.

Thank you. Sorry I am very behind on posts. Kathy

.......We may be able

to infer to some degree what the genetic variations are in a person

without having to characterize them, at least in a rough way. For

example, if we could just separate those who have CBS upregulations

or MTHFR A1298C SNPs from the rest, without expensive testing, that

would help a lot. I'm actually working along those lines, a.

It may turn out to be possible.

Rich

Joanee and Rich

>Considering next the methylation-cycle-related enzymes, we don't

have the complete results on these yet, but we do know that you were

born with an MTHFR A1298C (+/+). This means that at a minimum, you

would have had a tendency toward low levels of _tetrahydrobiopterin _

(BH4), which would have hindered your ability to synthesize serotonin and

dopamine.

/(I found this information on Yasko's DVD, she mentions that persons

with MTHFR A1298C (+/+) need to supplement BH4. Dr. Gordon wants to wait for

Yasko's test results to confirm this as BH4 is very expensive. This also brings

up the question of just how much supplementation to do at this point in time.

Yasko has a very long list of " step 1 " supplements and

strongly advises patients to spend sufficient time on step one prior to adding

all the elements of " step 2 " which is methylation. Of course, she is used to

treating children. I have already incorporated many of

the " step 2 and 3 " supplements over the course of time, like glutathione and I

am not sure how to proceed. I will attach a list of what I am taking and would

apprecriate imput from you and the group on what to modify.)

>

> ***I will of course defer to Dr. Yasko's advice on this, but it

> would seem to me that going ahead with BH4 would be a good idea.

As I understand it, Dr. Yasko wants to see if you have CBS SNPs before

> you start building up the methylation cycle to avoid increasing the

> flow into the transsulfuration pathway, but I don't believe that

> supplementing BH4 will affect that. On the other hand, it should

> give you benefits with your neurotransmitter synthesis, your nitric

> oxide synthase function/decrease in generation of oxidizing free

> radicals, and improved handling of ammonia by the urea cycle. We

> should know a lot more when your methylation SNPs panel comes back.

> I don't know if you've ever gotten a urine amino acids test run, but

> I would expect that your ratio of phenylalanine to tyrosine would

> show up as being high, which would be another indicator of low BH4.

>

> > /(Dr. Yasko's intuition is that most CFSers have CBS upregulation and

> > therefore have to deal with ammonia issue s first. Dr. Gordon had a

> > plasma ammonia level tsted for me last week and it was normal.

She notes that blood testing should provide results related to urine testing,

> > (blood testing is valid), so I am not sure if I need to start with

> > dealing with the ammonia issues related to upregulated CBS or not.

> Do you have an idea?)/

>

> ***Quite a few, but not all PWCs have CBS SNPs, based on my short

> experience with this so far. If you don't have elevated ammonia (of

> course you had to have been eating a fair amount of protein when you

> tested for this, or you could be fooled), if you don't have problems

> (such as headaches) from sulfur-containing supplements or foods, if

> you don't have elevated cystathionine or taurine in a urine amino

> acids test, if you don't smell ammonia in your perspiration, and if

> you don't generate a lot of foul-smelling gas i n your gut when you

> eat foods containing a lot of sulfur, then I would guess that you

> probably don't have a CBS upregulation. There's nothing like

having the SNP panel results to be sure, though!

>

August 28, 2006

Hi, Kathy.

Well, those are two of the SNPs that are on the Yasko panel, so

these results will tell us a little, but not the whole story.

You are heterozygous for MTHFR A1298C. Dr. Yasko would say that you

would have a tendency to be somewhat low in BH4. Since you are

female, if you also have aluminum toxicity, that would tend to block

the other enzyme for making BH4, and then you would be even lower in

it. Your phenylalanine to tyrosine ratio doesn't sound very high,

and that would say that you don't have a big shortage of BH4. BH4

might help you to some degree, but it doesn't sound like a major

problem for you. I understand it is quite expensive, and must come

from Japan or Switzerland. I suggest that you check on

autismanswer.com about sources and experience with it.I'll put my

list of questions below, and maybe we can make some other guesses

based on your responses.

You don't have the main CBS SNP that Dr. Yasko looks at (CBS

C699T). We don't know if you have one of the others, such as the

CBS C1080T, which she believes is also an upregulator, so at this

point I can't say if you would have a tendency toward excess ammonia

or not.

I think that's about all I can say from these results.

Rich

>

> Hi Rich, Do Sciona tests make sense after learning more about

Yasko? These were in heart panel.

> Well it looks site doesn't sell separate panels now. Kathy

>

> Sciona tests for MTHFR A1298C (I'm A/C) and CBS C699T (CC). Is

this one of the right CBS tests? Does this combination mean there

are ammonia issues? would BH4 be good for my case?

> Where do you get BH4? Has anyone tried it? I don't eat high

amounts of protein. Have been having gas from spirulina, no

problems other vegs. On my old amino acid test phenanyl... and

tyrosine both look mid range, tyrosine a little lower.

> Thank you. Sorry I am very behind on posts. Kathy

August 29, 2006

Hi Rich and Kathy,

I just wanted to mention something Dr. Amy wrote on the autismanswer

forum wrt phenylalanine.

" For instance Hippuric being high on an OAT test could indicate a

bacterial issue or elevated phenylalanine as a result of decreased BH4,

the excess phenylalanine can lead to higher levels of hippuric acid. "

So perhaps this means that one could have normal phenylalanine since it

is being converted to hippuric acid.

This article http://www.pnas.org/cgi/content/full/96/5/1811 says:

" Adding PAL to the diet could be one of these ways. PAL degrades

phenylalanine to ammonia and transcinnamic acid. The latter is a

harmless product that is degraded further to benzoic acid, which in turn

is converted to rapidly excreted hippuric acid "

Do you know what your hippuric acid is Kathy ?

Re: MTHFR and CBS and BH4