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This topic contains 16 replies, has 2 voices, and was last updated by Angeline Pacy 6 days ago.
March 4, 2012 at 1:36 pm #1192
My 7 yr old daughter (compound hetero) and I (homozygous for a1298c) take a supplement called BH4 at the advice of our nutritionist. It seems to help me with mood and generally feeling better, and sometimes I think it’s helping my daughter in the same way and sometimes I’m not sure. Also I’m not confident that we have enough information on how much to take. It’s a supplement that is very hard to find and there is little information on it. Can anyone offer insight into using the supplement BH4 — it’s from Ecological Formulas BH4 Homeopathic 2.5 mg Capsules. The ingredients list only BH4 (2x) but the bottle also says “BH4 contains Biopterin, a cofactor to critical enzyme pathways in human physiology.” Thank you in advance to anyone who can assist me.March 9, 2012 at 2:28 am #1280
My 15 year old son takes this same brand and it helps him a lot with fatigue and a little with emotional fragility. However, one thing to know is that it requires a lot of vitamin C. When I inadvertently switched from 1000mg pills of Vit C to 500, it stopped working, and I emailed our doctor and he figured it out.
So far we have been unsuccessful at adding a second BH4 without him falling apart. I’ve read on the Yasko boards that BH4 can cause strong detox, so that’s something to watch out for.
However, our biggest effect for regulating his mood has been to take him completely off of all glutamates. The truthinlabeling site has a list of hidden sources, or I write about it on my blog as well, stroyan.net/lisasblog .March 17, 2012 at 4:43 am #1363
I am a compound heterozygote, 1298 and 677, and have BH4 Deficiency which was confirmed via urine Neopterin/Biopterin testing. I tried self-treating w/pure BH4 powder from Schircks in Switzerland. It seemed to help but I discontinued taking it due to side-effects including eye hemorrhages.March 21, 2012 at 9:46 am #1448
Dr LynchKey Master
Debbie, Lisa and others –
There are ways to increase BH4 safely – without supplementing directly with biopterin.
The biggest gains in increasing biopterin are:
- decreasing inflammation
- decreasing infections
- – - both of these decrease neopterin which in turn increases biopterin formation
When neopterin is elevated, biopterin typically is decreased.
- decreasing ammonia levels
- adding methylfolate, iron, vitamin C, magnesium, b6 and others.
It is always best to support a cycle with the necessary precursors rather than supplementing directly with the end product.May 8, 2012 at 9:11 pm #2080
Dear Dr Ben, My son is 6 years old (48 lbs) has autism and is heterozygous for A1298 in his MTHFR test. Is there a supplement that you can recommend for this issue?May 26, 2012 at 10:32 pm #2282
Does anyone know a safe way to bring ammonia levels down rather quickly? maybe not even that but effectively and safely? I want to try to get my biopterine levels under control. I want to try to get my Vitamin C intake lowered as it is pretty expensive the amount I am taking.
Thank You for any reply,May 28, 2012 at 8:52 pm #2301
CBS mutations can increase ammonia, and people with those mutations are advised to lower the amount of meat they eat. Maybe that would work for you. I don’t think it means a person has to go vegetarian. Mmeat is the best food source of Vitamin B12, which you need for your MTHFR mutation, so that puts you in a bit of a quandry.August 21, 2012 at 2:38 am #3230
I am heterozygous for all three SNPs in genoset 223 (rs10483639, rs3783641, and rs8007267) which indicate mildly lower levels of tetrahydrobiopterin (BH4). I’ve started taking royal jelly in honey, but I haven’t noticed a difference. I’m considering taking a BH4 supplement. If I do, I’ll post back here with my results.September 6, 2012 at 10:15 pm #3396
Could somebody please give me a link to this “Ecological Formulas” BH4 Supplement? Cant find it anywhere.December 10, 2012 at 2:56 am #5669
Not sure about the Ecological Formula one, but this link sends you to something that looks exactly the same: http://www.nutrimedical.com/products.jhtml?method=view&product.id=4013April 16, 2013 at 8:41 pm #222977
Dr Ben, In the light of work by james Clelland ( http://www.researchgrantdatabase.com/g/1R21MH082331/), I am wondering if the BH4 deficiency could be genetic in addition to problems with inflammation and infection. As you probably know, Dr Amy yasko is finding many of the chronically ill adults on her forum have issues with low lithium. I am wondering if there are dots to be connected here.. Does lithium run low because the body is struggling to maintain/regulate BH4?
I do ok on BH4, but only if I am taking lithium with it *I think.*
Also in terms of supporting that pathway.. don’t many of us (CFS patients/kids on the spectrum) have low magnesium because there is not sufficient B6 to transport it into the cell …and aren’t we low in B6 because there’s no B2 to activate it?
thanks for your thoughts on these points.December 11, 2013 at 10:21 pm #378795
In addition to an A1298C mutation, I also have GenoSet GS224 (mild GTPCH1-deficient-HPA equivalent?). Unfortunately, the combination of my MTHFR A1298C mutation and my GS224 GenoSet apparently doubly impacts my ability to generate BH4. I believe this explains many of the mental/emotional and physical symptoms that I’ve been experiencing for decades now. Especially some symptoms similar to those of MS, Parkinson’s and PKU. Along with kidney issues, insomnia, tremors, muscle spasms, numbness & tingling, headaches, slurred speech, wild swings in blood pressure (hyperphenylalaninemia), (etc.). My father has lots of Parkinsonian-type symptoms that may from from a BH4-related issue too, so I’m going to test for his gene mutations next. My deceased paternal grandfather likely had it too, with all of his similar symptoms.
Instead of a BH4 suppliment, I see you have mentioned the following for possibly helping with the support of a BH4-deficiency:
methylfolate, iron, vitamin C, magnesium, b6
I also just read that 5-hydroxytryptophan (5-HTP) and even L-DOPA might help with my BH4-deficiency.
Honestly, I don’t even know where to start. Are there therapeutic entry points, reasonable ranges, targets, and maximum limits for all these supplements? Side effect and/or any gotchas?
Also, since a GP doesn’t know anything about any of this, would it be a neurologist that would know how to assess, treat and monitor this?
ScottDecember 24, 2013 at 5:04 pm #379184
I am seconding Scott_C’s post. I have virtually the same issues, and my case is further compounded by other SNPs.
What can be done if you are either homozygous or heterozygous for all MTHFR A1298c, MTHFR C677T, CBS, COMT, NOS and SUOX, though, in which methylfolate is contraindicated? Can BH4 be produced and utilized without methylfolate?
Furthermore, does anyone know of a reputable source of BH4 in the UK without prescription? I do in fact have hyperphenylalaninemia but my GP will not treat it because it is apparently not high enough yet.April 7, 2014 at 8:02 am #381359
Hi, I just found out through 23andme that my daughter is only heterozygous for A1298C (I am homozygous), but she is unfortunately homozygous for VDRTaq, MAO A r297R, and CBS A360A along with 7 other heterozygous mutations on the methylation profile (but not C677T). I have suffered terribly nonstop since childhood up to 42 years from depression, memory loss, word loss and so on with only disastrous effects from all the antidepressants my doctors have had me try (repeatedly, at that, because they feel the need to try something). I am at a point where even though I know the horror it will cause, I still try the SSRI’s they want me to because I do it for their sake. Isn’t that crazy in and of itself? But if I refuse and tell them I’ve tried and it was bad, they take me as being defiant to treatment and then I worry that the anxiolytic they do allow, they will deny me. I am terrified my daughter will have the same issues. With the genetics listed, her BH4 is supposedly very low. I cannot find any doctors in a 60mile radius that even know the slightest about this stuff. My own GP said she cannot help me whatsoever with my homozygous status because she has never heard of it. I work for a hospital system and emailed the main genetics dept asking if they could help and they know nothing either. I am so feeling defeated now with knowing my daughters status. I am maybe going to try BH4 myself and see what happens. OF NOTE: I noticed a dramatic decline in my daughters cognitive functioning after she, at the age of 5, first went to the dentist and got 5 amalgam fillings. (it was probably the mercury in them that caused it) For any of you out there reading this, if your child needs fillings, maybe the ceramic ones would be safer. The danger is in the dust created and inhaled/ingested (from which the mercury is absorbed into your system) while the dentist is filing the filling to fit your bite. …..ANYWAYS, as always, I am sooo thankful to Dr Ben and his creation of this website because it pretty much literally saved my life. I always knew there was a reason for the way I felt. I searched for years and years for an explanation. And now I understand it–even if my doctors don’t and refuse to even educate themselves on these genetics. At least I no longer have to live with the horrible guilt I used to feel for feeling the way I did and how I couldn’t ‘be normal and happy’ like everyone else. I no longer beat myself up every second of every day for it. When I have bad days, I tell myself the tide will turn if I just be patient and wait. And eventually it does, though it may take a few days. But before it was those days when it was very bad that the added self-guilt and self-hatred for not being able to ‘snap out of it’ like everyone would tell me, that made it ten times harder. Thanks to Dr Ben, and his information, I do not have to feel that bad anymore.April 7, 2014 at 8:29 am #381360
For Scott C above –I once was tried on a drug in patch form that kind of works like L-Dopa. It is called Emsam patch and is marketed for depression but the drug that it is –Selegilene is also available in oral tablet form for the treatment of Parkinson’s disease. It is an MAO inhibitor and stops the metabolism/breakdown of Dopamine in the brain and so keeps the Dopamine available (increases Dopamine levels). But because it is an MAO inhibitor, there is high risk of hypertensive crisis when you eat foods which contain Tyramine (which is pretty much in a lot of processed food these days.) Because it is an MAO inhibitor, they Tyramine is also not being metabolized and the effect of tyramine is acute hypertension. Like I said, I used the patch form because the tablet form has higher risk of the tyramine interaction. The patch is extremely expensive depending on dose it can range from $400 to $600 for a month supply. My Dr would not let me take the oral form for depression because they were worried of the risks. Even on the patch, there were times I got worried that I had eaten too much of something containing tyramine and I would get worried. But I never did have anything major happen. And of all the antidepressants I have tried (ALOT) the Emsam patch was the only one that actually helped me the most and without all the horrible side effects the others gave me. I stopped though because after about 6 months, the effect wore off (this does happen with most all antidepressants) and the adhesive on the patch itself -I was allergic to and so I had continuously healing squares all over my body and I was too vain for that. Of note: my daughter is VDRTaq +/+ and COMT -/- and it says that combination has the lowest levels of dopamine. QUESTION FOR DR BEN, FOR VDRTAQ +/+, SHOULD I GIVE MY DAUGHTER EXTRA VIT D?April 10, 2014 at 10:09 pm #381433
I found the cure for this illness before I knew the name of the disease. Today, I am a survivor. What is more, I am getting my life back! I have been struggling with a mild PKU since childhood from this very same gene mutation. It cycled with infections which were always chronic. It also came with mast cell disease, previously diagnosed as chronic idiopathic anaphylaxis and MCS, which I recently learned goes hand-in-hand with this specific mutation. Protein starving exacerbated a chronic and reactive hypoglycemia and my central nervous system was a mess. On top if it, the infections triggered auto-antibodies against my nervous system. Through a partnership with integrative clinicians who worked their butts off to help me AND an amazing research organization called GeroNova research (who make amazing products) and a lot of research, I have gone from terminal to independent. It also takes constant PT. I also loved the MTHFR support boards. They were a lifesaver. My BH4 went up because I can even eat some meat now (small amounts). But I do stay away from meat and cows milk casein during infections. I developed a cocktail of pharmaceutical and nutriceutical medications that changed my world! I have so much to be thankful for. Contact me if you would like to learn more about how to manage this horrible mutation! You can be a victor!!April 10, 2014 at 10:12 pm #381434
Ooops. I forgot to leave my information. Angelinepacy@hotmail.com