I was too tired last night to get this posted, but yesterday I got the commentary provided by Genova Diagnostics to the results of my NutrEval test. There are some interesting things listed and I feel I did a very good job interpreting my own results. Genova will only give information on things that are either elevated or below range, so even if you are 1 or 2 points away from being out of range, nothing is provided. The commentary results are not provided to the patient, so this is why it took so long to get them (as I had to get the doctor's office to copy them).
This commentary confirms I definitely have some type of mitochondrial dysfunction especially when it comes to utilizing B vitamins. The commentary is way too long to post on here (about 12 pages), so I will quote specific parts I feel are important.
For those of you who don't know what I am talking about, you can read the post about my NutrEval results. The NutrEval is a comprehensive test by Genova Diagnostics which looks at urine amino acids, branched chain amino acids, organic acids and fatty acids. This test only cost me $150 when submitted through my insurance through the "PayAssured" program. I believe it costs more now though. It must be ordered by a doctor who has an account with Genova Diagnostics. Getting the blood drawn is a pain in the butt because the lab must be willing to prepare the vials immediately. You can't just go into Labcorp or Quest Diagnostics and have this done.
Do I recommend this test? Yes and no. If you are not the type of person willing to research the hell out of your results, then it will be of no use to you. No doctor understands how to interpret them and you will be on your own. Upon typing NutrEval into google, I find my own forum posts asking for help and the few forum posts that are not my own, are others looking for interpretation advice with little to no luck. This test can be quite helpful if you put in the time to understand the results though. It gives you a nice peek into what your body is actually doing on a cellular level. But if you cannot even understand basic blood work results, then I do not recommend it. I don't want to sound rude, but basic blood tests are Kindergarten level compared to the results you will receive from the NutrEval.
There is a good handbook from Metametrix that is quite useful when interpreting the results. You can find the book on their own website at this link.
Areas of Interest
It goes on to say that this requires B1, B2, and B3 in specific forms (which you cannot buy or supplement with directly) and also lipoic acid. Elevated levels can also exist due to a weakness in decarboxylation of glyoxylate and alpha-ketoglutarate which can cause kidney stone formation. This would need to be further investigated by testing urine levels of oxalate and glyoxylate, but it is not very common.Elevated AKG can be due to specific weakness in the alpha-ketoglutaric acid dehydrogenase complex that converts AKG to downstream citric acid cycle metabolite, succinic acid.
Decreased activity of this complex is seen in Alzheimer's Disease so that is interesting.
The commentary on this one talks a lot about the THF form of Folic acid and B12. Histidine supplementation can raise this in the urine, but I was not taking that at the time of the test. It says to investigate Uric acid, succinylpurines, inosine and adenosine if levels of FIGLu continue to be elevated after supplementation of folate, B12, B6 and lipoic acid. Nothing too groundbreaking in this one in my opinion.
The commentary had an alternative reason why this could be elevated.
Less common causes of elevated MMA include deficiency or dysfunction of the apoenzyme, methylmalonyl-CoA Mutase or deficiency of the coenzyme, deoxyadenosylcobalamin, needed for cobalamin synthesis. In such cases, megadoses of B12 as hydroxycobalamin are appropriate...
Interestingly supposedly my great grandparents had pernicious anemia, but testing back then was probably not even close to what it is like now. How would they really know if it was pernicious anemia or a deficiency in a coenzyme? I have been tested for PA and I do not have it, thankfully.
Even this alternative reason doesn't seem to work because it says to take 1000-2000mcg of hydro B12 for a few days and then do megadoses orally. Well I think taking daily injections of MethylB12 for months surpasses this recommendation.
The commentary provided by Genova was especially enlightening and I think it explains some of the other elevations on my test.
B-AIB is a product of catabolism of pyrimidine nucleotides and it is an intermediate of valine-to-succinic acid metabolism. In valine-to-succinic acid metabolism, B-AIB is directly formed from methylmalonic acid semialdehyde.
It gives 4 reasons why this would be high.
Bingo! I think this is exactly what is going on with my body. I cannot make the active form of B12 which is why MMA, FIGLu and B-AIB is elevated. This would also explain why I need a lot of B12 to feel the effects from it. If my body cannot make the adeno form of B12 at an appropriate rate, it would only make sense that I need more of it to get past the enzyme issue.1. Vitamin B12 coenzyme function (as adenosylcobalamin) is weak. Elevated methylmalonic acid in urine (methylmalonic aciduria) would confirm this. Vitamin B12 deficiency or adenosylcobalamin coenzyme defect would be causative.
This is another good possibility too. This would explain other elevations in the test too, which is quite amazing to me. My test does make sense after all. More on this one in the Leucine and Isoleucine section.2. Vitamin B6 coenzyme function (as pyridoxal phosphate) is weak. B-AIB also transaminates to its keto analog.
This is not me at all, so I don't think that's the cause. I'm strictly German/Austrian as far as I know!3. The specific B-AIB to pyruvic acid transaminase is weak or absent. This is considered a benign variant of metabolism and is present in about 25% of Chinese and Japanese individuals and in about 8% of Scandinavian and Northwestern Europeans.
Even though I do not believe I have tumors or any cancers, I could see my body having to repair a lot of damaged tissues with the increased heart rates. This is something I will certainly keep in the back of my mind.4. Accelerated catabolism of DNA and RNA is occurring. Catabolism of damaged or diseased tissue, tumors and malignancy feature increased formation and excretion of B-AIB.
According to Genova's commentary there are a ton of possible explanations for an elevated Taurine level in your urine. You can be wasting Taurine so you are actually deficient or you can in fact be high in Taurine. Take your pick I guess.
I believe in my case this is likely what is occurring with me.
Then it goes on and lists all of the functions for Taurine, but were too long to list here. I think molybdenum is helpful so I will continue to take it.In molybdenum deficiency or sulfite oxidase impairment, elevated urine taurine results as a mode of sulfur excretion. Renal wasting of Taurine can be medically significant if it affects one or more of taurine's many important functions.
The commentary says that Hartnup Syndrome is not present because other elevations are not present. I have no idea what that is but I'm glad. haha
It says I am likely wasting tryptophan and have low blood tryptophan and low serotonin. Symptoms consistent with tryptophan deficiency are mainly those of serotonin insufficiency which may include: insomnia, anxiety, enhanced response to external stimuli (light, sound) and abnormal food cravings.
This is definitely interesting and I will keep this in mind too!
The commentary for this has been extremely helpful and I really wish I had got a copy of this sooner. It all makes sense to me now.
The light bulb went off in my head after reading this. Since my AKG is definitely NOT low by any means, then it has to be the coenzyme pyridoxal phosphate. If you recall from the beta-aminoisobutyric section, increases in that can be caused by:...This could indicate a weakness of transminase enzymes, limited quantities of alpha-ketoglutaric acid (AKG), or increased need for vitamin B6 as coenzyme pyridoxal phophate.
This is where the dots are beginning to connect and make sense. The Isoleucine and Leucine elevations are likely caused by the same issue causing elevations in the B-AIB, MMA and FIGLu.2. Vitamin B6 coenzyme function (as pyridoxal phosphate) is weak. B-AIB also transaminates to its keto analog.
The problem with all of this is that I cannot take the pyridoxal phosphate form (P5P) without suffering from heart palpitations. Is it worth another shot? I will have to do a little more research on this and see!
Clearly I have some sort of mitochondrial dysfunction when it comes to utilizing B vitamins
It says this can occur with impairment of purine metabolism. I have no idea how you would know if this was your issue. Another suggested cause is metabolic acidosis, which I suppose could be a possibility.
In metabolic or renal acidosis, glutaminase in the kidneys forms glutamic acid and ammonia which becomes basic ammonium hydroxide. This is a normal pH balancing mechanism for compensating acidosis.
Mainstream medicine says that having elevated Sarcosine is benign and basically warrants no further evaluation (except to supplement with folic acid).Deficiencies of the cofactors associated with sarcosine catabolism. These are folic acid as THF and Vitamin B2, riboflavin, bound to the sarcosine dehydrogenase enzyme as FAD. The methyl group fragment removed from sarcosine is at the oxidative level of CHO and can form formaldehyde if THF is insufficient.
I know this was very long, but I wanted to go through everything. I may try to take some P5P and see what happens to me. My doctor was going to give me another refill for B12 but maybe I'll get the adenocobalamin form instead. It is more costly though and is less stable than the MethylB12.
Hopefully this may be helpful to someone else who is sick with some stupid chronic illness. :)