Methylation: I must be from another planet

[Basilico]

I've tried posting previously on Dr. Amy's forum, but no one could provide any kind of insight, so I thought I might pick some brains here.

There are so many inconsistencies (comparing what my values should be to what they actually are) that I'm quite confused about the whole methylation thing.

I don't even react to supplements the way one would predict; I took a full month of Metanx (extremely high levels of methylfolate and P5P) before knowing anything about methylation and felt good for a month, then returned to baseline so I eventually stopped taking it.

At this point, I've gone through the entire methylation cycle protocol and have experienced nothing - neither good nor bad. It's like I was taking hundreds of dollars worth of sugar pills. At this point, I'm still daily taking methylfolate and methyl B12, but I don't feel any differently, so I'm unclear if:

1) I never had a methylation problem
2) I had a screwed up methylation problem but fixed it
3) I had and still have a screwed up methylation cycle.



Here is perhaps too much information:

#1: I have a homozygous CBS mutation. However,

Ammonia level - in BOTH blood and urine it is perfectly normal and Taurine and phenylalanine are also low: all three would be expected to be elevated in a CBS upregulation.

Urine Amino Acids - ACROSS THE BOARD all are either LOW normal or just LOW, including Taurine)

Sulphur - low end of normal. This correlates with my daily sulphur strips which almost always show either <200 or <400.

Even the day after eating high sulphur foods (eggs) my sulphur only goes up to <800. I do get terrible headaches after having 1 glass of wine or 1 cider, which was why I initially anticipated my sulphur levels would be very high.


#2: Biopterin - NORMAL
Neopterine - low
Neopterin/Biopterin Ratio: low

I was expecting low biopterin as a result of my mutations.

Supposedly, a marker for decreased BH4 is elevated phenylanine or ammonia, but both are low end of normal. So my BH4 is totally fine, which I would expect to be completely screwed up with my mutations.


#3: Homocysteine level blood - very low (4 umol/l)

This makes sense due to CBS, however, how can the homocysteine be pulled down the CBS drain without generating excess ammonia and sulphur?

Citrulline and methionine are both low, which does indicate a CBS up regulation (even though taurine, ammonia, and phenylalanine are perfect).

Thanks to anyone who throws me a bone!

 

[Valentijn]

@Basilico - Yasko is wrong about many things. The CBS SNPs she tests for do not cause any known problems, so treating on the basis of having those SNPs isn't sensible.

 

[Basilico]

Thanks, Valentijn.

I didn't get my genetic testing done through her, I did it through 23andme.

So, this means that having a CBS mutation is completely meaningless?

Does that mean my super low homocysteine is caused by something else?

Is BH4 completely meaningless, too?

I'm so confused!

 

[Valentijn]

I didn't get my genetic testing done through her, I did it through 23andme.

So, this means that having a CBS mutation is completely meaningless?

Yes, the ones listed by Genetic Genie in a Yasko-style report are meaningless. I haven't seen any serious up-regulations at the tested SNPs on the genes, just very mild ones. Typically the CBS gene only causes problem due to serious down-regulations.

Does that mean my super low homocysteine is caused by something else?

Was it tested while you were taking methylation supplements? It's possible that those were draining homocysteine.

Is BH4 completely meaningless, too?

If referring to the BHMT gene, then the Yasko/Genetic Genie SNPs are pretty meaningless. I've got a list of the relevant ones (based on reading all of the research) at http://forums.phoenixrising.me/index.php?threads/interesting-bhmt-and-bhmt2-variations.24512/ - though typically it's the missense mutations which will be having an appreciable impact.

 

[cman89]

I would suggest looking at a Methyl b12/ Methylfolate based supplement regimen and trying that for effectiveness.

 

[liverock]

Thanks, Valentijn.

I didn't get my genetic testing done through her, I did it through 23andme.

So, this means that having a CBS mutation is completely meaningless?

Does that mean my super low homocysteine is caused by something else?

Is BH4 completely meaningless, too?

I'm so confused!

Homocysteine @ 4 is borderline low and low homocysteine is just as bad as high homocysteine.
Your going to have low homocysteine if you dont eat enough protein in your diet to create adequate methionine. Low protein will also mean low sulphur as well.

http://www.drkendalstewart.com/wp-c...9/Significance-of-Low-Plasma-Homocysteine.pdf

 

[Basilico]

Typically the CBS gene only causes problem due to serious down-regulations.

Was it tested while you were taking methylation supplements? It's possible that those were draining homocysteine.

It was tested before taking any supplements.

If referring to the BHMT gene, then the Yasko/Genetic Genie SNPs are pretty meaningless. I've got a list of the relevant ones (based on reading all of the research) at http://forums.phoenixrising.me/index.php?threads/interesting-bhmt-and-bhmt2-variations.24512/ - though typically it's the missense mutations which will be having an appreciable impact.

I will check out the link you provided - thanks!

I would suggest looking at a Methyl b12/ Methylfolate based supplement regimen and trying that for effectiveness.

I've been on Methyl B12/Methylfolate for months and haven't felt anything - that's sort of central to my original post.

Homocysteine @ 4 is borderline low and low homocysteine is just as bad as high homocysteine.
Your going to have low homocysteine if you dont eat enough protein in your diet to create adequate methionine. Low protein will also mean low sulphur as well.

http://www.drkendalstewart.com/wp-c...9/Significance-of-Low-Plasma-Homocysteine.pdf

I eat animal protein every day; I'm a pretty big carnivore Just another example of me not fitting in with what would be expected.

 

[cman89]

It was tested before taking any supplements.



I will check out the link you provided - thanks!



I've been on Methyl B12/Methylfolate for months and haven't felt anything - that's sort of central to my original post.



I eat animal protein every day; I'm a pretty big carnivore Just another example of me not fitting in with what would be expected.

I apologize if I missed that detail. I assumed when you said Yasko you were using other versions of supplements. However, there can be also great variances in brand effectiveness.