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BH4 - looking for an expert


My Yasko SNPs are back and unfortunately, it confirms a heterozygous polymorphism for MTHF and CBS up regulation, as well as for NOS. Unfortunately, I am very depleted on BH4, as it was confirmed by the ION test, as well as the status of my BH4 from a German lab. I have been prescribed a month's worth of BH4 (Kuvan), but doctor's are now reluctant to prescribe me more, until someone with a genetical background can confirm them that the SNP do indeed lead to BH4 depletion (even though BH4 ARE very low on lab results and Ammonia is high). I have been calling around Germany, trying to find labs/doctors that would look at SNP polymorphisms and can confirm that those polymorphisms do indeed lead to BH4 depletion, but could not find ONE that did know what I was talking about. Poor Germany.

Do you guys know somebody in the US who can issue something like a genetical analysis of my SNPs and a recommendation. I am obviously very happy to pay for it, just need to find somebody that can analyze the SNPs, the I would have no problem getting y prescription.



No. But couldn't you get Dr. Yasko to do it? You could also try Dr. Roberts (www.heartfixer.com) - he is a heart doctor but he is the one who interpreted my genes for me. Also, you could call a lab that offers genetic tests and ask if one of their genetics folks could do it for you. But I do not see why your doctor wouldn't accept studies from google/scholar which show that.

If it is mthfr 1298 that you have then I have the same genes as you and I do not take BH4. Estrogen raises BH4 and I do hormone replacement. The amount of estrogen a doctor will give you is not enough to replace what you had so I did it with DHEA. It will prevent glutamate toxicity, which is what you have if you have elevated ammonia. I have 3 genes that cause low BH4 but I do not have elevated ammonia. To excrete ammonia you also need magnesium. And a sensible low protein diet. Once you get the above in place you can calibrate how much protein you can take by eating a prescribed amount and then testing for serum ammonia. I can eat 80 grams but rarely eat that much. There are studies that prove estrogen protects against glutamate toxicity which kindof proves it helps BH4. But I also found a reference to a study showing estrogen has been tested to raise BH4. You'd have to look at the study for the details (maybe it just spares BH4 from losses due to other things. I posted something elsewhere here that say this and maybe says what nutrients affect BH4 status because there are nutrients that do. If not I have that info elsewhere and can search for it. Best wishes. I would get BH4 if I could but it is just another expense and I take so many pill already.

Here's where I posted about estrogen helping BH4 (second note in). I had a heck of a time finding this spot again to get you the pathname. Th esearch did not work for BH4 - I don't know why: http://forums.phoenixrising.me/show...lation-hyperxciteability-and-things-that-help
I don't have time to re-research this (and I lost my meory stick where I had boiled down the thigs that affect BH4, so I am going to wing it, which means I may be wrong becxause my memory is none too good w/o the memory stick.

Methylfolate and vitamin C both raise BH4: http://www.life-enhancement.com/article_template.asp?id=841
Estrogen replenishes BH4: http://journals.lww.com/menopausejou...scular.20.aspx
reservatrol raises glutathione and BH4 (but moreso in women):

Things that raise BH4
?Vitamin C
?Niacin, niacinamide
?Insulin (normal/low blood sugar) [5]
?Possibly helpful: purine GTP (BH4 can be made from it)

Things that lower BH4
?Genetic polymorphism MTHFR A1298C
?High protein (Ammonia -- 2 BH4 required to eliminate 1 NH3)
?ROS (radical oxygen species)
?High blood sugar (due to oxidative stress)
?Aspirin (interferes with folate absorption)
?Excessive exercise? (Protein breakdown into ammonia)
?Hypothyroid (oxidative stress) (probably hyperthyroid too, I'd guess)
?Lithium, if it causes hypothyroid (it can)
?Hypopituitary (causes oxidative stress)

So note that BH4 is terribly sensitive to oxidation. DHEA stops that oxidation cycle for me. I take 50mg at breakfast and 25mg at lunch or dinner so it is always in my system (it only persists 20 hours). I have horrifically high blood pressure caused by low NO, low BH4, and DHEA brings it right down (and stops the low bood sugar shakes). Like in half an hour.


Senior Member
So how does one test BH4 status? Original poster makes reference to the ION panel showing this result. Does she mean Genova ION Profile? What metabolite on that panel would cross reference to BH4?