Question: Hi. I'd like to know if someone could interpret my data. I've asked the question before, but I now have done an Organic Acids Test (OAT) and have received the results, so maybe that can help. It doesn't seem to resolve on its own.

It started after a period where I took a baby aspirin, 3-4g vitamin C, magnesium, ate citrus fruits, and fasted for about 1 month. I had stabbing pain in my chest, my pulse would rise quickly if I exerted myself, and my kidneys started hurting. That was about 8 months ago. Then I started getting excessively thirsty and getting palpitations and all my veins and capillaries have gotten more visible. Some veins that I put some pressure on have remained slightly distended. I couldn't quench my thirst unless I drank mineral (with gas) water or milk. My urinary pH is mostly 7-8.
I once tried to eat very little fat and more rice and potatos for a few weeks and I lost 3 kg, was extremely thirsty and my veins got even more visible.

The kidney pain has subsided somewhat. Creatinine then was normal. But whenever I try to drink normal water my excessive thirst comes again.
The thirst and palpitations come on stronger also if I take the following:
- Lysine powder
- Ascorbate
- Niacinamide
- Copper (I think)

If I take B6 my muscles start twitching and hurting more easily. It is strange since the OAT shows I'm low on vitamin C and B6.

I did most of my tests at private clinics as all my doctors say I'm imagining my symptoms. Does the data show that I could be imagining it all?

They also did a Candida check. I've uploaded those results as well. It is resistant to Fluconazole.

I have of course speculated wildly about what it could be:

- the Candida infection
- some sort of inborn errors of metabolism
for this I found I have a SNP in PFKM which I don't know if it affects my glycolysis: rs0000 R100Q, AA
- some sort of alkalosis or acidosis (don't know what would indicate one or the other)

Hi

Thanks for the detailed reply. I have a few more clarifying questions. I've been in this state where I get extremely thirsty and get palpitations and chest pain for 8 months now as soon as I start drinking normal tap water and even more if I eat too many carbs. I've been trying to understand what's going on. I would be grateful if you could give them a glance over and say if something sounds crazy or if it could be ok.

After I discontinued the baby aspirin (after taking it for about 1 month) my kidney pain subsided. After a few weeks I tried to take it again for 2 days and the kidney pain returned on the second day together with extreme dizziness whenever I stood up or sat down. I then knew that it must be doing something wrong to me and my kidneys.

Since then I couldn't exercise at all as any type of strenuous exercise causes extreme thirst for several days, unless I drink a lot of milk.


1. Wrt. the rs0000 R100Q SNP in PFKM:
The SNP is mentioned here: http://web.expasy.org/variant_pages/VAR_006065.html

It mentions it as being pathogenic, but I cannot know for sure. I do have other homozygous SNPs in that gene but they are intergenic (23andme). The reason I'm considering it is that I have 2 times tried to eat more rice/fruit for 1 week and very little fat and both times I got very hot, super thirsty no matter how much water I drank, and I started loosing weight.
Maybe I should write the 23andme people as it seems a bit uncertain tricky even when I read the reference article.


2. Could something like renal tubular acidosis (type 4?) (RTA) be a possibility? I'm thinking here that my urine pH varies from 7-8 during the day, and one of the times that I went to a private clinic for a urine test I had protein +1, so I don't think this state is good for my kidneys.

- Maybe I'm loosing too many minerals due to the RTA or the normal water doesn't neutralize the acidosis?
- Could RTA cause some of the organic acids on the test to be off?
- Also I had too low serum chloride and slightly high calcium, high renin (and aldosterone on another test). Could RTA cause that? And also the higher production of catecholamines which lead to immunosuppression?
- Perhaps if the PFKM doesn't function, my body breaks down amino acids (I tried supplementing with Lysine and it seems to especially provoke extra thirst and palpitation) which increase some of the organic acid leading to higher acidosis?

- Is there an indirect way to see if it is acidosis? Like drink plain water with bicarbonate and see if I feel better or worse? And the same with something acidic?

- If it were RTA coupled with some inborn problems, what could I do about it?

3. My ideas now
I'm now trying to eat more fat and only around 100-150g carbs.
Maybe reduce Lysine foods (more gelatine), and too much protein in general, and prevent starvation scenarios.
I supplement with some Acetyl L-Carnitine.
I will try to avoid too many phenols (as you also mentioned) and benzoates as they also do something that brings on symptoms.

But I cannot seem to be able to return to drinking normal water and eating however I want, nor exercise. If it is RTA or some inborn thing, or both at the same time, I need a way to clear those acids out again. Maybe I just need the right regime and give it time...


Thank you,
XXXX XXXXXXX XXXX

Hi, thank for your response. I've read something about glycogen storage disease 7 (PFKM deficiency) and it says that blood cells die faster. Could that explain the low reticulocyte count?

I need to go to a private lab to get tested, so maybe I'll do that in a week.

I don't know much about physiology, so I cannot explain it. I'm just looking for something I could do to stop the thirst.

I just read something about an anion gap that could be indicative when something is wrong with electrolytes. Is that something you can see from the results? I don't have bicarbonate in my blood samples, is there another way to say something about the anion gap from the rest of the data? Like from the low Cl, slightly high Ca, high renin, high total testosterone (because of high SHBG)?

Where could the Cl be lost? In the urine together with the other ions?

It is interesting the I loos all cations except Na in the urine. Is that because of the high renin and aldosterone? Can that say something about the anion gap/acidosis/alkalosis?

Thank you,
XXXX

Thanks for the answer. One more and I'll stop :)

It is difficult to try to find an explanation for the persistent thirst. All the tests i did were done during periods where i was drinking 1 or slightly more liters of goat milk per day. It was also the only time that i could do some light training without almost dying of thirst for several days aftrwards.
I've been drinking only milk or mineral water with added salt and sometimes calcium citrate for 6 months now. So certain compositions of fluids work better. Though when I quit milk as I'm trying now, it's less optimal thirstwise even with the water mixture. For some reason it works only with milk and mineral water and not when I use plain water with added salt + calcium citrate.

And sometimes i felt almost normal (apart for the now larger veins systemically). I also had an ultrasound done and the only thing mentioned was a that my vena cava was 2.4 cm in diameter. Also, during the endoscopy the doctor said that i had very visible capilaries on my esophagus. So I'm serious about that my veins have all gotten larger.

If i go back to drinking normal water the thirst builds up quickly. And I remain thirsty even if I drink. It's a thirst that kind of hurts to have. I also get excessively thirsty if I drink coconut water instead.

I also found the SNP rs0000 in my ACADL gene mentioned on rhis page: www.omim.org/entry/609576

So perhaps there could be a long chain fatty acid metabolism problem?

I did not have these problems before I took the Aspirin. After that and the kidney pain it seems like my body is unable to manage something with the electrolytes or something.

I also react to niacinamide and lysine and vit C supplements (not taking them for a long time now). And if I take b6 my muscles get twitchy and i feel as if my arms lack strength.
If I get stressed then my muscles in my lower arms and hands start hurting as soon as the epinephrine/norepinephrine hits the blood. So I try to stay relaxed despite circumstances.

I really doubt it's all in my head given the amount of control I have over the symptoms with all these fluids. Also, the reaction to aspirin cannot possibly be in my head.
Should I try a nephrologist if I can find a pruvate one do you think?

Thnak you for your time.

Regards,
XXXX

Ps. Both my ACADL and the PFKM SNP alleles are homozygous for the minor allele.

Another thing. I also tested my ammonia levels 2 weeks after I stopped the aspirin last year and it was 85.3 umol/L where the given normal range was 16-60. It had come down to 35 two months after that.

Ok, thank you for your time. That makes sense. I'll try not to overburden my liver in any way and find a way to work around these potential problems.

Thank you. Maybe one last thing then that I could clear up. It's something that I've wondered about for a while but never remembered to ask my doctor. I seem to have an extra muscle between my right clavicle and neck and if I tense it then it squeezes the veins along the neck. When I could train a year ago, I remember that sometimes that vein would swell up a lot when occluded by that muscle. Is it normal to have it or?

I have attached a few photos that I took of it. My right side is on the left in the photo.


I've named them 'neck_muscle01.jpg' and 'neck_mucle02.jpg'.

Thank you.

Sorry. Must be because there were already too many things uploaded. I deleted some and re-uploaded the images. They should be there now.