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What are the symptoms of ACAT issues?

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15,786
Thanks also for the tip about MTRR - I just checked, and I'm actually homozygous for MTRR A664A and heterozygous for A66G , so maybe I should be paying more attention to those.
MTRR A664A is mildly beneficial when +/+, since Yasko got it backwards. The substantial missense mutations like MTRR A66G will only have an effect when homozygous or compound heterozygous.

So based on those two, there's no indication that there's any reduction in MTRR enzyme activity.
 
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14
Hi all

I'm back again looking for some advice. I got a bunch of test results back, and some of them surprised me.
Before I continue I should add that I had been taking B12 and methylfolate plus a bunch of other recommended supplements, but stopped everything about 12 days before the blood tests, so that I would have a "normal" base when taking the test. I'm not sure if 12 days was enough of a gap, so just though I'd mention that.

Anyway, the surprises in my results were:
  1. low homocysteine: 4 mcmol/L (the labs range was 5 to 15) I am homozygous MTHFR C677T, so this was a real surprise.
  2. high folic acid: 23 ng/mL (labs range 3.5 to 20)
  3. high B12: 1130 pg/mL (labs range 180-910)
  4. low Alpha 2 values in Serum protein electrophoresis (there were 2 alpha-2 readings, I was below threshold in both)
CK levels were high too but I do a lot of weightlifting and take creatine and lots of protein, so that didn't surprise me.

Can anyone help understand what's going on with the low homocysteine? Is it related to a CBS issue? I have homozygous CBS A360A and BHMT-08, and heterozygous BHMT-02, if that's of any relevance.

Any other feedback would be appreciated. My GP is aware of MTHFR issues, so we were expecting high homocysteine given my family medical history. I'm not sure what we're going to do now.

thanks
 

Kathevans

Senior Member
Messages
689
Location
Boston, Massachusetts
I have heterozygous issues with both CBS and both BHMTs, and the same low homocysteine. My alternadoc kept saying he wasn't sure why the homocysteine was draining down the CBS pathway--but this is all Greek to me. I do see on my genetic snps chart that B6 is a cofactor for CBS, which is to suggest that it helps to promote the genes' functioning. I've been taking about 30mg p5p now for a while and am hoping it's helping! Some things are actually better, though I have a long way to go...

And I know that BHMT represents the so-called short cut through the methylation cycle and that if the long way around is hobbled, this shorter pathway can assist in methylation. The cofactor to assist BHMT is zinc and I've had good results supplementing with low doses--12mg pincolinate/day.

I'm fairly conservative in my supplementation, but do believe that many of these cofactors can help the cycles run more efficiently, particularly if hobbled.

(I have to ask if your tight trapezius muscles have resolved...! Mine are less excruciating, but somehow--I'm still thinking the ratio between MeB12 and Folate, which I'm futzing around with at roughly 2:1--I haven't yet gotten it right.)

Good luck!
 
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Kathevans

Senior Member
Messages
689
Location
Boston, Massachusetts
@Valentijn since the B12 works well for you and you know so much about the snps,do you have an opinion about the TCN1 and 2 genes? I haven't tried lithium orotate, but hear that it can assist in the transport of B12 into the cells...

Thanks!
 

Critterina

Senior Member
Messages
1,238
Location
Arizona, USA
To me, it's hard to understand low homocysteine in a vacuum, even with the MTHFR and other SNPs known. Did they test methionine or any of the other metabolites?

I am homozygous for both MTRR and BHMT-08 (per my signature), so that methyl cycle has it's impediments. But low methionine came up with homocysteine in the bottom quintile, and with other indications of protein maldigestion and skeletal muscle catabolism (high 3-methyl histadine). That's just one possible explanation for low(er) homocysteine. I'm sure there are others.
 
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14
@Kathevans yes, my trapezium pain cleared up as soon as I came off the methylfolate, and started on Ornithine+Arginine plus charcoal at bedtime. Once I followed Ben Lynch's CBS and ACAT protocols for a few weeks, I went back to the methylfolate without any problems, so that definitely helped.

@Critterina unfortunately, they didn't test methionine. Thanks for mentioning it though. I am also homozygous for MTRR A664A (but apparently this is one is mildy beneficial according to Valentijn).
 

Kathevans

Senior Member
Messages
689
Location
Boston, Massachusetts
I am homozygous for both MTRR and BHMT-08 (per my signature), so that methyl cycle has it's impediments. But low methionine came up with homocysteine in the bottom quintile, and with other indications of protein maldigestion and skeletal muscle catabolism (high 3-methyl histadine). That's just one possible explanation for low(er) homocysteine. I'm sure there are others.
I never had a test for methionine, or if I have, I need to go back and see what it was!--but I certainly have muscle catabolism. I've lost a lot of muscle mass since I've been sick. This is yet another thing I have to look into.

Thanks.

yes, my trapezium pain cleared up as soon as I came off the methylfolate, and started on Ornithine+Arginine plus charcoal at bedtime. Once I followed Ben Lynch's CBS and ACAT protocols for a few weeks, I went back to the methylfolate without any problems, so that definitely helped.
I also have a few CBS heterozygous snps, but my ACAT rs3741049 is C;C +/+, which on Promethease is labeled 'Good', so I take it, this is not the risk allele.

In the past I've had a lot of trouble taking amino acids as they completely disrupt my sleep. And the one time I took activated charcoal, it did the same. I'll have to read up on Ben Lynch's site. I do like his Seeking Health B-complex, which I do very well on. It's my go-to B-Complex with nice, low amount of those lower Bs.

I've been working on Freddd's protocol, but, having reached 3.5 mg of MeB12 and 1,200mcg of Folate, I still struggle with sleep issues and seeming folate insufficiencies or paradoxical folate insufficiency, not to mention lots of pain and muscle weakness. If I'm lucky, I get one low-pain day out of an increase in B-12, then return to the same old, same old. I've been reading a thread on ramping up folate, which for those who have done it, seems to work wonders. Getting to the sweet spot where you can do that is the challenge.

For the moment, I'm looking at lithium orotate supplements--given my TCN snps (Seeking Health has a good one)--and mulling my situation. I paused and for the second time, took only dibencozide today, about 1/2, or 5,000 mg of the sublingual and felt some mild anxiety throughout the day. We'll see how I sleep. With no folate or MeB12, the pain has been about usual.

There's so much to learn...and to figure out!:thumbdown:
 
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