Hence, this question of why, is what fuels my continual research into pyridoxine and its relationship to epilepsy. Years ago, when I first read about Pyridoxine Deficiency, I was astounded to learn that the lack of a simple vitamin could be the root cause of some cases of catastrophic epilepsy. Biotin, folic acid, and a few other basic vitamins are also implicated in epilepsy and autism, which there are plenty of case studies and research to support such claims. However, pyridoxine deficiencies, dependencies, and connections to seizures have always been a focus of mine personally, since again, they help Mira in some capacity.
About a month ago, I was looking for additional pyridoxine/epilepsy connections, beyond what I have found in the past (PDE, homocystinuria, etc.) and discovered something I had never heard of: pyroluria. As it turns out, pyroluria goes by a host of different names, including pyroluria, pyrroluria, pyrrole disorder, kryptopyrroluria, hemepyrrole, Mauve Factor, malvaria, and more recently, HPL (hydroxyhemopyrrolin-2-one). First of all, why so many different names? That question led me down a serious rabbit hole of interesting research that dates back to 1929. But first things first.
What is pyroluria? The concept behind pyroluria seems to be pretty straightforward, however its relevance and prominence in mainstream medicine is very elusive, possibly because it is called by so many different names. I can't remember where exactly I first read about the term pyroluria, but a quick Google search led me to Wikipedia's excerpt on orthomolecular psychiatry, where it describes pyroluria, hystadelia, and histapenia, which are two other 'syndromes' I had never heard of. I was instantly hooked on where all of this was headed, so I started to dive deeper and ended up at a website called orthomolecular.org and its associated medical publication, entitled the Journal of Orthomolecular Medicine. In all of my years of reading, I had never heard of any of this, which required me to have a history lesson before I went any further.
Before we start talking about pyroluria, let's step back and ask a more important question: what is orthomolecular psychiatry or orthomolecular medicine (OM)? It is a branch of alternative medicine that believes that the root of many diseases is an imbalance or deficiency of nutrients, specific to an individual's biochemistry. You can get a brief overview of OM here, taking Wikipedia (or any other open-source forum for that matter) with a grain of salt. I focused in on pyroluria in particular, which ultimately led me to Carl Pfeiffer's article on schizophrenia - Pfieffer being one of the 'founders' of OM research. His article focused on the relationship between pyridoxine, zinc, and manganese and schizophrenia.
Initially, the researcher in me was interested in the medical background of pyroluria, but the skeptic in me kept a close eye on how and where all of these studies on this relatively obscure syndrome, were stemming from. This particular article on schizophrenia was published in, along with nearly all other articles having to do with pyroluria, the Journal of Orthomolecular Medicine, which is not a mainstream publication. It is more of an isolated 'fringe' collection of studies and abstracts by a core group of biologists, chemists, researchers, doctors, and other relevant contributors, all working toward a common theme that revolves around the principles of OM, at least that is the way it is described by critics. Much of the criticism for these types of alternative medicine publications is redundant. Rejected by mainstream medicine, these researchers chose to start their own exclusive collection, collaborating only internally, within their own 'bubble', which ultimately means one should discredit most, if not all of this type of research, since well, it's not actually considered 'real medicine'. At the end of the day, I kept reading simply out of curiosity.
As it turns out, Carl Pfeiffer wrote an entire book on the subjects of pyroluria, histadelia, and histapenia, which can be downloaded here. It's an interesting overview of the research and extent that Pfeiffer and his colleagues had gone to investigate and implement their therapeutic approaches, offering up some cheesy cartoons for comic relief along the read. I was interested in pyroluria, so initially skimmed ahead to page 139, which didn't go into a whole lot of detail, other than some anecdotal information on symptoms, which could honestly be attributed to a host of different syndromes or situations. Pfieffer has written two other books, both centering around the idea of OM and the treatment of various ailments, neither of which I have read.
I did however, go back and read some of the other chapters on copper toxicity and ironically, homocystinuria, both of which have to do with pyridoxine and zinc, of which Pfeiffer and others have used extensively as therapeutic agents in their studies. Copper toxicity and ASD have been the focus of countless studies in the last 20 years, including this one, another one here, and yet another one here. Much of the research that Pfeiffer (and others prior to that, since the late 1920's) has some validity in contemporary, mainstream medicine, only the identifiers and names are perhaps different. Zinc for instance, is a strong copper antagonist and does have some significance in creating a proper zinc/copper/manganese balance in the body, at least from what I have read.
After absorbing as much as I could stand regarding the concept of pyroluria (and considering I initially started on this journey reading about other pyridoxine connections) I have mixed emotions about all of it. The relevant historical research that attempts to establish a connection between pyrroles (which some claim to not even exist), epilepsy, and autism is somewhat vague and isolated to a handful of articles, beginning in the 1950's. Perhaps this is due to the lack of real examples (Pfeiffer only offers 1 or 2 patient cases in his book) and the absence of controlled studies on the subject. Perhaps the understanding of pyroluria was merely in its infancy, with Pfeiffer being limited by the technology and resources accessible at the time. Perhaps pyroluria goes by so many different names, that the spectrum is so vast it is difficult to pinpoint a particular study that encompasses all of these early ideas. There are some legitimate associations between mineral toxicities and zinc/manganese/pyridoxine therapies that are recent and relevant. Ironically, some of the current research references the early works of Pfeiffer, Hoffer, O'Reilly, and even contemporary pyroluria researchers, including Dr. Dietrich Klinghardt, who continues to beat the drum for those who are willing to listen.
I have just been diving into this over the past month and will continue to read more. If you are interested in getting an overview of pyroluria, which is referenced as the Mauve Factor in these articles, I would encourage you to read the following two part series and form your own opinion on it:
Happy reading and I will post a follow up on this soon.