Hello, and greetings from Sippy Downs, Queensland Australia.

I decided to join this forum after cat265 posted a link to my web site in the thread new web site for B12 deficiency.

I have suffered what is probably irreversible neurological damage, as a result of misdiagnosis of vitamin B12 deficiency.

I have also recently been diagnosed with vitamin D deficiency and DHA (an essential fatty acid) deficiency. We are still in the early stages of testing for these problems. I also have lactose intolerance and ventricular tachycardia (a potentially dangerous increase in heart rate), and I am being treated for depression.

In May 2007, I set up a web site, Errors in Pathology, Arrogance, Apathy and Greed – Causes of Misdiagnosis of Vitamin B12 Deficiency, for the sole purpose of exposing the misdiagnosis of vitamin B12 deficiency. It contains no advertising, does not offer to sell anything and is funded entirely by me.

As cat265 found my site a little confusing, I will try to explain here what it is about.

I claim that vitamin B12 deficiency is misdiagnosed, causing unnecessary suffering in thousands of patients, because:

• Pathology labs recommend, and doctors order, the wrong tests
• The labs quote incorrect reference intervals and cut-offs
• There are frequently very significant analytical errors

After I discovered my B12 deficiency in October 2005, I commenced investigation of my disease. This included research on the Internet and laboratory tests. On the References page of my web site, I have provided direct links to many of the research articles that I found.

It soon became clear that there were very serious problems with the lab results. Over the next 13 months, what started as an investigation of my B12 deficiency became an investigation of the labs.

On my web site, I provide details of my investigation, with access to all evidence including lab reports and an Excel file containing tables of results and charts.

This first investigation covered what I call Series 1 of my lab testing, from October 2005 to November 2006. Two much shorter investigations from early 2007, Series 2 and 3 are also included.

I will post a separate message about my current tests, Series 4.

Although one lab threatened me with legal action before I published my site, there has been no response from them in the six months since publication. Indeed, no lab or pathologist has taken up my offer to publish a response to refute my claims.

My attempts to advertise my site in the medical media have failed; they will not allow any criticism of the medical profession in Australia. The doctors are also not interested; of 119 doctors organisations I contacted, only 6 agreed to raise the problem of vitamin B12 deficiency with their members.

If you visit my web site, I suggest that you read these pages first:

If you are interested in my investigation:

• Home Page
• About Me under Personal
• Summary and My Story under The Investigation
• Remaining pages under The Investigation
• All pages under Quality Assurance?

If you are looking for information about B12 deficiency:

• References - contains links to many expert reports
• Expert Opinion under Vitamin B12 Deficiency

If you are looking for more technical information:

• Both pages under Interpreting Results
• Both pages under Immunoassays

If you would like to see the response to my claims and my web site:

• Responses under Right of Reply
• Both pages under Right to Know

I welcome any comments or questions about my web site. I suggest that you first read at least the following two references (there are direct links from the References page):

• G1, Vitamin B12 Deficiency, Oh and Brown, Am Fam Physician
• H6, Active-B12 (holotranscobalami)

The first reference is an excellent independent report on how to diagnose vitamin B12 deficiency.

The second reference is produced by a supplier of test kits for the new test for Active B12 (holotranscobalamin) and you need to be aware that it is promoting a product. I am currently testing the claims made for Active B12, as part of my Series 4 tests, and cannot yet publicly comment on the effectiveness of the test. It is worth reading because it gives a good explanation of B12 deficiency.

You are invited to visit my web site at www.paulgolding.id.au/.

Please post any comments or questions to this thread. If you wish to contact me for a private discussion, please Email me from Paul in the Contact page of my web site.

Thank you.

Paul

I did look at your site, but it is rather large for me.

I can see you are actively working to bring information to others' attention.
And that is always a good thing. It is however, unfortunate and wasteful to have to be injured in order to do it.

I didn't read every word of your site, but I do have a question. Given all the nutrients you seem to be low in, did you ever get evaluated for gluten intolerance or celiac? There is a difference between them test wise, but basically they both can cause malabsorption of nutrients. So over time these patients develop many deficiencies.

We have a Gluten forum here, and there are resources on the net that are very detailed.
http://jccglutenfree.googlepages.com/

I am sure there are folks here who can benefit from your postings. This problem of hidden or unaddressed medical issues is appalling. This is the main reason I post on the internet.

People don't always answer on bulletin boards here, so don't become discouraged...there are eyes reading and thinking.

Hello mrsd,

Thank you for your comments and suggestion.

I was tested for gluten intolerance and celiac disease a few years ago, at the same time that my lactose intolerance was diagnosed, and was negative.

You do raise a very good point though because, as pointed out by my rheumatologist, malabsorption disorders often come in groups. We are concerned about my borderline levels of iron and zinc and will be doing further testing. At present I am focussing on my B12 deficiency research, as well as my vitamin D and DHA deficiencies.

Paul

Hello,

In my first post, I mentioned that I am currently conducting a new series of tests, Series 4. Here I will explain what I am doing and why. I hope to be able to post some preliminary results in a few weeks.

As described in detail on my web site, I have already confirmed that total serum B12 is useless for the diagnosis of vitamin B12 deficiency. My claim is supported by the opinion of experts quoted on my web site:

• Read the quotes in Expert Opinion under Vitamin B12 Deficiency
• Read at least reference G1, Vitamin B12 Deficiency, Oh and Brown, Am Fam Physician
• Read reference H6, Active-B12 (holotranscobalamin)

My own findings, from my tests of 2006, support this claim:

• Read My Story under The Investigation

Before I continue, I should point out that what I am doing is potentially very dangerous. As they say, "please don't try this at home". I am working closely with my doctors and pathology labs to minimise the risk.

I am currently using myself as a "guinea pig" to determine the effectiveness of the various pathology blood tests. I am doing this by allowing my vitamin B12 level to progress from depletion of stores to definite cellular B12 deficiency.

If you would like some information about the stages of vitamin B12 deficiency then I suggest that you read page 16 of reference H6, and reference G1. There are direct links to these reports from the References page of my web site.

Unlike the first three series of tests, described in detail on my web site, this new series is not investigating the specific laboratories taking part. The labs are fully cooperating with my investigations.

There are two objectives of my current research:

• Determine the minimum dose needed to correct my B12 deficiency
• Evaluate the effectiveness of the currently available pathology tests

I commenced having my blood samples collected weekly since 5 March 2007, by QML Pathology in Brisbane, as part of a dose-finding trial. This has been done by commercial agreement, at my expense, and no cost to Medicare.

The weekly sample was only tested for total serum B12 by QML, until we added holotranscobalamin (Active B12) on 17 September.

To protect myself against the onset of vitamin B12 deficiency, which might not be detected by either total serum B12 or Active B12, I also tested for the two metabolic markers of B12 deficiency. Every four weeks, QML sends three frozen serum samples to the NSW Biochemical Genetics Service at The Children's Hospital Westmead in Sydney (CHW). One of these samples is tested for methylmalonic acid (MMA) and total homocysteine (tHcy) using stable isotope dilution tandem mass spectrometry (LC-MS/MS); this is the reference method used by Mayo labs. All three samples are stored frozen for future testing by another lab. I have confidence in the reliability of results from CHW because of their excellent performance last year.

The initial main objective was to assist in finding the cause of the deficiency. For example, if the required dose was very small then the cause is more likely to be dietary deficiency than PA. By slowly reducing the dose of oral B12 in steps, from 1000µg per day to 10µg per day, I can test the dose response. I have used Excel to construct charts to compare the dose and the response.

I recently decided to extend the trial to include the second objective of observing the response of all four analytes, total serum B12, active B12, MMA and tHcy, as my cellular vitamin B12 deficiency proceeds.

When my results are conclusive, or when it becomes too dangerous to continue, I will commence increasing the dose of oral B12 in steps up to 2000µg per day.

I intend to publish preliminary results on my web site, as charts and a table, once the trend is clearer. It has taken eight months, and 35 blood tests, so far. Clinical trials take a long time and cannot be hurried if we are to obtain valid data.

To summarise, these are the tests that I am comparing as markers of vitamin B12 deficiency:

• Total serum B12
• Active B12 (holotranscobalamin)
• Methylmalonic acid
• Total homocysteine

Please post any comments or questions to this thread. If you wish to contact me for a private discussion, please Email me from Paul in the Contact page of my web site at http://www.paulgolding.id.au/.

Thank you.

Paul

Paul, I diagnoised myself with a functional B12 deficiency.

My B12 was well within normal - 750, but my homocysteine was elevated, originally 13.5-ish. Supplementing with oral cyanocobalamin only resulted in a small decine into the mid 12's.

But starting mega doses of methycobalamin brought it down quickly into the normal range within a week. I just had more testing of this today and won't know the new levels for a few days.

I think that there are who have normal B12's above the median value, who are functionally deficient of the neurologically active form, methyl-B12 and have no clue, and their doctors have no clue either.

Hello theresej,

Please be very careful about self-diagnosis of B12 deficiency.

I understand that many members of this forum are probably here because they have not been able to get the help that they need from medical professionals. I cannot blame anyone for wanting to "do it yourself"; if you read About Me on my web site, you will understand why.

Until May this year, I was unable to find a doctor who either knew or cared about vitamin B12 deficiency (except for my psychiatrist). I am very fortunate to now have a doctor who is interested in nutritional and holistic medicine.

It would be best if you could find a local doctor who knows about nutritional disorders.

I am torn between wanting to give advice, and the need to be cautious; I am not medically qualified. I do have tertiary qualifications in applied science and engineering, with my main interest in scientific instrumentation. While I am competent to design scientific experiments and analyse the results, including my current series of tests, all that I know about B12 deficiency comes from two years of reading about it on the Internet.

Although I cannot offer medical advice, I can offer to share my research findings with anyone who is interested. This is partly why I have published my web site. The References page contains direct links to many articles; this is intended to be a resource for others to use.

Having said all that, I will respond to the specific issues that you raised:

1. You used the change in homocysteine to diagnose your B12 deficiency. There are potentially some serious problems with this:

• Homocysteine can be affected by either vitamin B12 or by folate. Just as it is possible to mask B12 deficiency by using folate supplements, it is possible to mask a folate deficiency by taking large doses of B12. Because of the complex chemical interaction between homocysteine, folate and B12, it is possible that the reduction in homocysteine level does not confirm a vitamin B12 deficiency.
• You should be very careful about relying on just two measurements. Homocysteine is susceptible to very significant variations between measurements. Even if you maintained a perfectly stable diet, lab errors can be a major problem. As reported on my web site, different labs reported huge differences for the same sample, and there were unexplained variations between consecutive samples from the one lab.
• Methylmalonic acid is a much more specific marker of vitamin B12 deficiency because it is not affected by folate levels. As you have commenced taking B12 supplements, there is no point in measuring MMA now.

I strongly suggest that you have your red-cell folate measured, if you have not already done so, otherwise you cannot draw any conclusion from your observation, and could be at risk of folate deficiency.

2. You did not give the units for your B12 level of 750. Some labs still report in pg/ml (ng/l) while others have changed to the SI unit of pmol/l. If your result was in pg/ml then you can convert it to pmol/l, as follows:

• (Concentration in pg/mL) x (0.7378) = pmol/L

So, if your result was 750 pg/ml, it is equal to 553 pmol/l; any lab would report that result as normal. Although this does not exclude the possibility of vitamin B12 deficiency, your level is way above what is normally the "grey zone". I suggest that you read the article by Oh and Brown, which is reference G1 on my References page. In the same section, B12 Deficiency - Diagnosis, you will find several articles that are useful.

3. Until recently, methylcobalamin was not readily available here in Australia, so all my testing has been done with cyanocobalamin. There have been many comments on forums about how methylcobalamin has been found to be more effective. This is reported to be because the cyano form requires conversion to the methyl form in the body. There are links to several articles on oral treatment of B12 deficiency in the B12 Deficiency - Treatment section of my References page.

4. I am not sure what you mean by "the neurologically active form, methyl-B12". You appear to have made a connection between the form of oral dose and the neurological effect of a deficiency. I would expect the cyano form to correct a deficiency, regardless of the symptoms, although with less efficiency than the methyl form. Similarly, I would expect the methyl form to correct a deficiency that has only haematological symptoms.

5. I agree that most doctors do not have a clue.

I suggest that you do all of the following:

• If you have not done so already, check for the possibility of folate deficiency by having your red-cell folate measured.
  
• As you have already started., continue taking the B12 supplements unless you become certain that you do not have vitamin B12 deficiency.
  
• Search for a doctor who specialises in nutritional or holistic medicine.
  
• Read as much about B12 deficiency as you can, especially the findings of researchers, starting with reference G1 on my web site.
  
• Before accepting advice that you either do or do not have a B12 deficiency, ask “what is the evidence?”. Remember that is that there is currently no agreed “gold standard” test for vitamin B12 deficiency. You will have to make a decision based on the imperfect tests that are currently available.

Paul

Hi Paul,

I very much appreciate your concern and your sense of caution.

I have a BSN, and in the last year, because of my "event" in June 06 and the diagnosis of unexplained stroke, have really delved into nutritional research to the point I am considering going back for my masters in clinical nutrition.

As you know, testing becomes expensive, especially when tests are outside the norm. I strongly suspect that red cell folate testing is not a usualy test paid for by insurance companies. My red blood cells themselves are fine. I show no signs of folate deficiency other than possibly my homocysteine level being elevated.

My research focused heavily on homocysteine in the summer of 06. I was amazed to find out how very involved an elevation of this amino acid is in soooo many health problems. Being part of the medical community myself, I was, to say the least, quite upset that routine testing for elevated homocysteine has not become the norm, and to learn that homocysteine, not cholesterol, is perhaps the best predictor of heart diease, attack and stroke. I was quite surprised to learn that most people with HD, HA or stroke do not have elevated cholesterols at all.

HD, HA and stroke have been based on the fat model, ie cholesterol, for almost 100 years. Several decades ago, a Harvard professor/researcher, discovered the link between proteins and HD, HA and stroke, ie homocysteine, and was summarily pushed out of his position at Harvard. However, he unleashed research world wide that is still ongoing. One of the world's foremost researchers in this area was in my area, but passed away a couple years ago.

I discovered that a supplement I had been taking of grape seek/skin extracts and herbs created by Dr Foltz, the discoverer of the beneificial affects of aspirin on HA, had been keeping the inflammatory, blood thickening, excessive clotting elevated homocysteine causes at bay. When I stopped taking it in January 06, all sorts of symptoms surfaced, including cognitive decline, psoriasis, very heavy, irregular menstrual bleeding/hemorrahging (when there had been no bleeding for the year I was one the supplementation), very thick blood (even the cardiologist I eventually saw commented on this) and more I can't remember right now, all worsening and leading to the "event" of june 06. I suspected the possiblity of stroke, though it was strange, and immediately resumed that supplementation. Some of those symptoms immediately responded - for instance, no more menstrual bleeding at all, the psoriasis gradually cleared, my thick blood which resulted in a finger stick eleciting no blood whatsoever reverseing each time I took a dose to blood that flowed freely.

But from the point of the "event", many neurological symptoms began to appear, some I had had for years, but never understood they were neurological, and they worsened, others were new.

As the year progressed, and I was suddenly thrown into a high sensory environment, and at least once amonth into such that was chaotic, I began to experience serioulsy debilitiating symtpoms for a few to several days aferwards.

My research led me to Multiple Scleriosis as a possible diagnosis, as I developed almost all of the symptoms that fit MS.

Because of my elevated homocyteine, we were looking for the cause. I had genetic testing done on the pathway that utilizes B12 and folic acid as co-enzymes . it was normal.

My B12 was normal - 600+ - 750 range.

My B6 is elevated - 40's to 50's range.

doctor wouldn't test the folate at that time due to the fact that people are rarely deficienty in folate. She just tested it the other day - awaiting results.

Since my B12 was well within normal, and the genetic test came back normal, nothing further was looked into regarding B12.

They didn't know what to do with my B6 level, and still don't, though now we are going to look at my P5P level as simlar high levels of B6 are found in autistic patients who also have low P5P, the functional form of B6. I need to find out the cost of this test as it has to be sent to Mayo to be done.

Now, regarding my "self diagnosis" - it is being done under the supervisiosn of my doctor. I work closely with her and have taken on doing a lot of research into my issues and possible explanations and she is very supportive and responsive to what I share with her.


How I arrived at this diagnosis:

I came across some information regarding functional B12 deficiency and finger nails. Some claim that verticle ridges in the nails and loss of the moons indicates a B12 deficiency. I have both. There is no agreement on this, but I decided to run with it.

I started supplementing with mega doses of Sublingual methylcobalamin, 3,000mcg twice a day.

A week later my doctor drew my B12 and homocyteine levels, B12 was greater than 2000 and my homocysteine had dropped to within normal limits, the first time it had done so in almost a year and a half. Previously, supplementing with cyanocobalamin in the hundreds of mcg range only dropped the homocysteine by a point at which time it stablized and did not respond further. Supplementing with methylcobalamin sublingually dropped it 4 points almost overnight. There appears to be a strong, direct cause/effect link.

Additionally, my cognitive, energy, and mood symptoms gradually improved. Gradually over the period of the 1st month of this supplementation, some of my phsycial neurolgical symptoms have been improving. At the one month mark, I had a few days where I felt better than I have literally in many years.

The fact that at my cognitive, mood and energy levels have been steadily improving, and that some of my physical neurological symptoms, such as serious spacisity and weakness in my arms, are getting better, plus the fact that my homocysteine responded so quickly once one of it's important methyl donor was available in sufficient quantilty to allow it to be methylated back into methionine, thus decreasing its level in the blood, all points to a very evident functional deficiency in the neurologically active form of B12, methylcobalamin.

My dioctor agrees. When I said I self diagnosed, I mean I was the one to discover this.

I also self diagnosed the fact that since the "event" I developed postural HYPERtension, where your BP goes UP when you sit or stand up, is normal when you are laying down, which can have neurological causes according to my cardiologist. The doctors didn't catch that the hypertension I developed was postural hypertention, I did. (My medical bacground is partially in CCU/Cardiovascular Recovery/Heart surgery sop I wasn't satisfied with a simple "you've got hypertension" with no explanation, I wanted to find out why.)

Back to the methyl B12. By taking the methylcobalamin sublingually I avoid any potential gastro intestinal absorption issues.

Given that my labs have never shown any sign whatseover of anemia, which has been tested for, the chances that I have a folate problem are slim, but not outside the realm of possiblity. I am also taking from 800 - 1600 of folate a day with the methylcobalamin, which should be more than sufficiernt from what I understand.

It is best if I can find a doctor who knows about nutritional disorders. I have tried. My doctor has tried. We have not been very successful. She is trying again to find me such a doctor.

I have been reading a great deal about B12 deficiency. I believe it is a very serious issue that is going largely undiagnosed in perhaps millions of people.

I believe a very simple place to start in such diagnosis are these lab tests:


B12
Homocysteine
MMA (Methylmalonic Acid).


While homocysteine is not exclusively driven by B12, its elevation should raise serious red flags about B12 status even if the B12 is high normal. Then B6 and Folate should also be looked at.

Of course, MMA is very specific to B12 and its elevation indicates a deficiency in B12 even if serum levels are very normal, and if they are in the upper half of normal, an elevated MMA would indicate a functional deficiency of B12. It won't tell you the cause, but it is highly diagnostic.


My MMA level had not been checked during all this, so I have no idea what it was before starting this supplementation.

While my homocysteine level could be affected by any of the 3, B12, B6 and folate, the fact that it responded so quickly to the mega doses of mehtylcobalamin indicates that this methyl donor was lacking, ie a functional deficiency.

We still don't know why.

I have "diagnosed" myself with vitamin deficiency. I am very ignorant regarging to the possible dangers of this. I read all the benefits people got from taking methyl b12 and i fugured out it would be good to give it a try, since according to Rose here, one cannot be damaged by too much B12. Do you think this is stupid??? I don't want to spend loooooong hours and a lot of money on making the blod tests. Besides, if the information they show is no reliable, what is the point of getting them??

Hello theresej,

Thank you for explaining your situation so clearly, and in so much detail.

It is now apparent that you know what you are doing; I hope that my words of caution did not offend you. I am worried about less experienced people acting on advice, either given on these forums or from ignorant doctors, without first carefully checking the evidence.

If you have not already done so, I suggest that you visit the excellent web site of Rose. This is a direct link: http://roseannster.googlepages.com/home

Paul

Hello Monica,

As I said to theresej, before it became apparent that she knows what she is doing, please be very careful about self-diagnosis of B12 deficiency.

No, it is not stupid to take methylcobalamin if you are vitamin B12 deficient; it is the best form available. I did not use it for my research because it was not readily available here, and I do appear to respond well to cyanocobalamin.

If you had not already commenced taking the supplement then I would have suggested tests for methylmalonic acid and homocysteine first. Once you are taking B12, you can no longer compare the before and after results.

The problem with having taken the supplements before testing is that you do not know whether or not you actually need them. I cannot advise you to stop taking them in order to find out. This is because, if you are deficient, you could suffer harm by ceasing treatment for the time it would take to return to your original levels.

My research shows that it can take a very long time to deplete your stores; a very dangerous thing to do because damage can occur even at high B12 levels. This is why it is so important to get the evidence of disease before taking the supplement.

Is it worth having the blood tests? You will need to decide for yourself, but consider these possible scenarios:

1. No blood tests, no treatment, with B12 deficiency:

• Increasing disability
• Eventual death likely

2. No blood tests, taking supplements, no B12 deficiency:

• Unnecessarily taking supplements for life
• Risk of masking folate deficiency

My advice to you is similar to what I offered to theresej:

• Search for a doctor who specialises in nutritional or holistic medicine.
  
• Read as much about B12 deficiency as you can, especially the findings of researchers, starting with reference G1 on my web site.
  
• Before accepting advice that you either do or do not have a B12 deficiency, ask “what is the evidence?”. Remember that is that there is currently no agreed “gold standard” test for vitamin B12 deficiency. You will have to make a decision based on the imperfect tests that are currently available.

Paul