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Dr. Andrew Rynne
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Dr. Andrew Rynne

Family Physician

Exp 50 years

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What do these following lab reports indicate?

Answered by
Dr.
Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3801 Questions

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Posted on Tue, 7 Jun 2016 in Genetics
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)
doctor
Answered by Dr. Diptanshu Das 4 hours later
Brief Answer:
Findings discussed in detail.

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have gone very carefully through your query as well as the attached reports. * * Speaking about inborn error of metabolism, Glutaric aciduria needs to be evaluated for. Moreover, the HVA:VMA ratio is slightly altered. It may happen in Menkes disease which is characterized by seizures, failure to thrive, subnormal body temperature, and strikingly peculiar hair, which is kinky, colorless or steel-colored, and easily broken. There can be extensive neurodegeneration in the gray matter of the brain. Unless you have these, you need not worry.
* Your blood lipid levels are high and you need dietary restriction and it has to be backed up with regular exercise and morning walk. You also need to take a fiber rich diet containing a lot of fruits and vegetables.
* Sometime in the past, you probably had a mono (infectious mononucleosis) - a common viral cause of sore throat. This is indicated by the Epstein Barr Virus IgG.
* The urinary parameters are deranged. It could be due to concentrated due to lack of proper hydration. Take plenty of water and fluids to drink. I would insist you to repeat the tests after a week or so.
* Reticulocyte count indicates the production rate of red blood cells. It is on the lower side. Get a total blood count done after a week.
* The Vitamin D levels are low and need supplementation.
* The pH of urine may range from 4.5 to 8 and hence does not look concerning.
* Hippuric acid is typically increased with increased consumption of phenolic compounds (tea, wine, fruit juices). So, you might like to reduce the intake of those items.
* SNP in PFKM does not look concerning.
* The present tests are not for any Candida infection or acidosis/alkalosis.
* About the thirst, I would insist you to take plenty of water as well as ORS (oral rehydration solution)

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Diptanshu Das 27 hours later
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
doctor
Answered by Dr. Diptanshu Das 13 hours later
Brief Answer:
There seems to be a minor problem in the carbohydrate metabolism pathway

Detailed Answer:
Thanks for writing back. Sorry for not being able to respond faster.

I have gone carefully through the updates. I have checked the link. There could be some genetic defect relating to an enzyme related to carbohydrate metabolism and that could correlate with some of the investigational findings. I am not sure if some of the metabolites produced in the process have any role in the symptoms that you mention. But in any case, probably there is not much that can be done about it.

I would like to know the reason you feel that there could be a connection with renal tubular acidosis. Since I find no direct correlation I am skipping the questions related to the same. Let me know if there is any definite finding that makes you suspect about the same. Also mention if there has been a medical correlation about the same.

I am not sure if taking more of fats would be a solution for you. This is because in the normal process of bodily functions carbohydrate metabolism comes in. Moreover, there are other alternate pathways that take over in case there is any problem. I do not understand what exact is the problem if you take normal water. In any case, you may try improvizing and see if it helps.

Regards
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Diptanshu Das 40 hours later
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


doctor
Answered by Dr. Diptanshu Das 10 hours later
Brief Answer:
Take ORS (oral rehydration solution)

Detailed Answer:
Thanks for writing back.

Yours is not a glycogen storage disease. So, it is not relevant to you what happens in that disease. The dynamics of early red cell destruction in that disease is not applicable to you and hence I am not going into details. I would not consider the retiulocyte count to be normal. It is simply in the lower range of the acceptable range. It does not seem to be a cause for concern. I would have bothered about it only if the hemoglobin levels, the RBC count or the hematocrit was less. Not a cause of concern in your case.

Once again, I would not be worried about anion gap acidosis. For that to be the case, there would have to be a cause for built up of organic acids. Do not bother about chloride levels either. The lowering of intracellular sodium levels could manifest with increased thirst and if that is the case, all you need to do is to take ORS.

In case you want to find out about the anion gap, you need to get a blood gas analysis (preferably arterial) done.

I do not think that you should try to understand the pathophysiology of renin-angiotensin system and the dynamics of urine formation since that involves a significant understanding of physiology of the body and there are several underlying concepts to master first. The understanding starts from cellular biology and that is hard to describe withing the scope of this answer. I understand your noble efforts to find a solution to your thirst. But even if you find a correlation, I doubt if it would make an actual difference in terms of intervention.

I hope you understand.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Diptanshu Das 36 hours later
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.
doctor
Answered by Dr. Diptanshu Das 3 hours later
Brief Answer:
Rare diseases are harder to manage.

Detailed Answer:
Thanks for writing back. The problem with your problem is that it is quite rare and it would be hard for any doctor to be conversant with the exact nature of the problems that you are facing. In other words, it is unlikely that you would be able to find doctors who can actually help you. You can visit a nephrologist about the elevation in ammonia levels and see if he can offer you an explanation. You need not be on the look out for pyruvate for the same.

Rather than bothering about the SNP of minor alleles, you would need to figure out things that give you relief. If there is a fluid or food item that aggravates your problems, avoid it. If something else suits you, continue with it.

The SNP could have some links to fatty acid metabolism and that could be affecting the liver, which in turn could lead to portal hypertension on one hand (leading to engorgement of lower esophageal veins and the vena cava) and elevation in ammonia levels on the other. However, the effects could be transient in nature but gradually building up with time.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Diptanshu Das 30 minutes later
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.
doctor
Answered by Dr. Diptanshu Das 1 hour later
Brief Answer:
I would be glad to help

Detailed Answer:
Thanks. It is not a question of your overburdening me. It's a matter of my being able to help you out. Unfortunately due to the nature of your problem, not only I but practically any other doctor will also be in a fix.

But I will be available. Do bug me whenever you have a query and I will try to help.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Diptanshu Das 2 hours later
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.
doctor
Answered by Dr. Diptanshu Das 5 hours later
Brief Answer:
Images not attached.

Detailed Answer:
Thanks for writing back once again. The 'extra muscle' could be sternocleidomastoid but it is hard to comment without a proper clinical examination. I did not find the images attached and neither did I get them by email. I would insist you to reattach them.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Diptanshu Das 2 hours later
Sorry. Must be because there were already too many things uploaded. I deleted some and re-uploaded the images. They should be there now.
doctor
Answered by Dr. Diptanshu Das 9 hours later
Brief Answer:
The disposition of neck muscles seems proper.

Detailed Answer:
Thanks fo rwriting back. I have gone through the attachments. The disposition of the muscles seems proper. However, as expressed earlier, you probably seem to be pointing to the sternocleidomastoid muscle which seems more prominent. It is normal and not a cause of concern. You may do static neck exercises (google out for the techniques) and that should rebalance the sizes of the muscles.

There seems to be slight venous engorgement on the side of your neck. That could be linked to portal hypertension (raised blood pressure in portal vein of liver). Remain in follow up with your doctor and things would be fine.

Regards
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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