Post-DAN! Update

[Guest guest]

POST-DAN UPDATE: I have finally recovered enough from recent events to make an

attempt to discuss some of the issues that came up at the most recent and most

incredible DAN! conference, including some info from the Think Tank that you

have been discussing on the lists.

Genomic Testing: Researchers are very excited by this, and it will definitely

be more helpful as more is learned by this process. However, there is

inadequate evidence that we can as yet get any help with subtyping or treating

autism with finding out SNPs (single nucleotide polymorphisms), so most of us

clinical types (as opposed to the researcher types) still view genomic testing

as research. However, if a parent insists on knowing any as yet known genetic

bases for the problems and can accept an incomplete picture, it does no harm

(except $$ which might be used for more directly helpful tests) to get this.

The problem is, there are so many genomic variants out there that the incomplete

SNP findings could be very deceiving as to appropriate therapy. To quote Dr.

Pangborn: “Suppose both MTHFR SNPs are off, indicating that 5-meTHF (“Folapro”)

is needed. But suppose that one or more other things is also wrong: methionine

synthase reductase weakness, Hg stalling Met synthase, no Me-Cbl because

glutathionylCbl is deficient, etc. In such cases, 5-meTHF can’t be used because

it has no place to go. (GSCbl or MeCbl might help.)”

In other words, to have the complete picture that might guide appropriate

therapy, we would need both MTHFRs, both GSH-S-transferases that Dr. Jill

has found as problems, betaine-Hcy methyltransferase, probably methionine

synthase reductase, definitely COMT, and for a few, the creatine transporter.

And there may be some more common genomic variants out there. There is still a

lot unknown but more information is coming in every day both from clinicians and

researchers to help us with our complex little teachers. However, the stampede

by some of you to get the genomic testing may not answer as many questions as

you hoped for, and probably should be done when suggested by your doctor who

knows how to best interpret it for you and may have a reason because of your

child’s clinical picture to get this particular testing.

Creatine: The $64,000 question is: Does creatine cross the blood-brain

barrier? Dr. Dick Deth and Dr. Green are working on this along with many

others, and when the creatine transporter system is defective, creatine

transport by passive diffusion is slow and requires a big concentration

gradient. This means very large doses, how large, we don’t know yet and it is

being studied. Too much creatine if there is any hidden kidney problems is not

good, and kids should be given a lot of water to drink when taking this

nutrient. Doses to be effective may cause stomach distress. Also, if mercury

is still in the brain, phosphorylation of the creatine is impaired, and no

matter how much you give it will probably not be helpful as the deficiency is

the phosphocreatine. This would imply that creatine would probably be more

effective after chelation has been completed showing very little mercury output,

but this is a conjecture and still needs to be studied. In other words, though

we know creatine may be deficient in many of our kids’ brains, the use of oral

creatine has many issues that have not as yet been elucidated. I’ll keep you

posted as I find out more, and Tyrus is looking into a way to try to get this in

by some other than the oral route so it might get to the brain more efficiently.

Methylcobalamin: We have learned about even more benefits of the

methylcobalamin than we knew at the last conference, and the evidence is that

90% of our kids benefit to some extent, some remarkably so, with injectable

M-B12, and many of them without other treatments per Dr. Neubrander’s experiment

of giving it to children immediately when they first come see him and during

awaiting the results of the other routine testing. I believe every child

deserves an adequate trial of this treatment, and evidence so far is that other

ways of getting it may be somewhat beneficial for a few kids, but the difference

in the kids getting the injections is impressive.

Methionine: I have been hearing of some bad reactions to large dose methionine,

and asked Jon Pangborn about it. He feels that methionine in large doses is not

a good idea for this reason: Methionine’s metabolism gets stuck at SAM, and

some then goes to methionine sulfoxide until the SAH-Hcy-Met synthase log jam is

opened up (possibly by methylcobalamin). Methylation cannot be pushed by

methionine when S-adenosylhomocysteine is elevated. SAM can’t push it either;

not until SAH is normalized. And after SAH is normalized, more recycle of Hcy

to Met and more Met should occur, making large doses of Met unnecessary.

Methionine acts as a reducing agent, but bottom line is: there are lots of

safer antioxidants like vitamin C and GSH.

I would suggest this not be used unless your doc recommends and supervises it.

Best wishes to all! Dr. JM