CBS Defect Together With High Homocysteine and Low Sulfate / Sulfite

[poneParticipant February 22, 2015 at 10:22 pm Post count: 9]

#7744

I have CBS A360A rs1801181 alleles at AG (risk is A). I have CBS A360A rs1801181 alleles at AG (risk is A). I do NOT have SUOX gene defect. The descriptions of these defects suggest I should have low or high normal homocysteine, because I am upregulated on the enzyme that converts homocysteine down the CBS pathway to sulfite then sulfate.

My homocysteine is high. It tests typically around 9 to 11, and after a 2.5 gram methionine test challenge it soars to 15.9. My sulfate is low (around 300 according to Quantofix strips tested against urine), and my sulfite is 10 or less (again, testing with Quantofix). I am confused how can my sulfate be so low when I have high homocysteine and my CBS is upregulated?

I have additional defects, and it looks like these things just affect each other in non trivial ways:

MTHFR C677T rs1801133 AG (risk is A)

MTR A2756G rs1805087 GG (risk is G)
MTRR K350A rs162036 GG (risk is G)
MTRR rs3776467 AG (risk is G)
MTRR rs9332 AA (risk is A)

COMT rs6269 AG (risk is G)
COMT H62H rs4633 CT (risk is T)
COMT V158M rs4680 AG (risk is A)

BHMT-02 rs567754 CT (risk is T)
BHMT-08 rs651852 TT (risk is T)
BHMT R239Q rs3733890 AG (risk is A)

Any insights here are appreciated.

P.S., are there any applications yet that will try to balance out all of your defects by seeing how they might operate together as a group? The descriptions of the individual defects end up not always being true, as my case apparently demonstrates with COMT.

[poneParticipant February 23, 2015 at 12:53 am Post count: 9]

#7769

On first line of my post, I meant to say I am CBS C699T rs234706 AG (risk is A)

[Cynthia SmithParticipant March 7, 2015 at 2:41 am Post count: 206]

#8787

There are multiple enzymatic pathways that generate homocysteine, but only one to break it down. The trans-sulfuration pathway can be aberrant in those with low Vit B6 and a high oxalate diet (oxalate breakdown enzymes chew up B6, required for serotonin production). Check your G6PD enzyme status also.

[poneParticipant March 8, 2015 at 6:17 pm Post count: 9]

#8854

Cynthia, I am high homocysteine. All descriptions I see of the CBS defect suggest it will move homocysteine to low normal, because homocysteine is drained to feed CBS. The fact that I am both high homocysteine and also have CBS defect suggests that my CBS is not so overactive?

In addition, my question is still why should I fear high sulfate? Low sulfite and high sulfate would mean my SUOX works fine. High sulfate might mean I just had a lot of sulfur containing foods. Sulfate is good for the liver. Why should I fear it?

The problem I am seeing with MTHFR is that it only describes pathways and suggests possible defects. But it is not very useful as it exists today, because it should also describe what are the clinical symptoms that the defect has manifested in a bad way. And if you don’t have those measurable defects in chemistry, then why spend time treating something that isn’t actually manifesting in a bad way?

[Cynthia SmithParticipant March 8, 2015 at 8:02 pm Post count: 206]

#8859

Do not fear sulfur foods. In your case, you must clear ammonia and keep your blood sugar stable. Ive not spoken with you and learned your health history, but first line of defense is lowering ammonia (NaK butyrate) and eating small low carb meals throughout the day, including a protein snack before bed. Also, you will need a strategy to get O2 to brain. Exercising is important. Interval training to push O2 to brain and lower ammonia and boost calming neurotransmitters.

[poneParticipant March 8, 2015 at 10:55 pm Post count: 9]

#8869

What is the best test to measure my ammonia levels? I’m looking for that in serum? I assume BUN captures it indirectly in a urinalysis?

Can you publish URL to your web site? I didn’t realize you were practicing in this area.

I have tried Sodium Potassium Butyrate, but it literally runs right through me. It always causes bad diarrhea. I have also tried sodium butyrate and I get the same result. My GI Effects tests say I have no pathogens, but also high butyrate and evidence of both starch and protein and fat indigestion. I have since gone on the specific carbohydrate diet and tolerate that really well.

• This reply was modified 9 years, 1 month ago by  pone.

[Lea (Admin)Keymaster March 9, 2015 at 5:58 pm Post count: 296]

#8922

Hi Pone,

You can find Cynthia’s contact details here under Sterling’s bio http://mthfrsupport.com/our-team/.

Lea

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