Vitamin B12 and autism: more to do

by Paul Whiteley in Questioning Answers

The short report by Malhotra and colleagues* linking a case of the regressive condition childhood disintegrative disorder, CDD (otherwise known as Heller's syndrome) with vitamin B12 deficiency and hyperhomocysteinemia has grabbed my attention.Malhotra et al report that following the identification of said nutritional issues, supplementation with vitamin B12 and a few other nutrients, seemed to correlate with some improvements in the 14 year old at the centre of this paper, according to parental reports. The authors suggest: "A case is made for vitamin B12 deficiency syndrome presenting as CDD".Methyl Curt Cobain... er, cobalamin @ Wikipedia  Bearing in mind the overlap between CDD with autism or autistic-like behaviours, and that the Malhotra paper was a case report (good news when it comes to the autism and n=1 philosophy), one has to caution against making any sweeping generalisations to the autisms as a whole. That being said and bearing in mind others have talked about developmental regression** being linked to hypocobalaminemia, it did make me take a look at some of the other scientific literature on any link between vitamin B12 and autism.I have actually talked about vitamin B12 before on this blog. A few times in fact; ranging from vitamin B12 optic neuropathy presenting in cases of autism (see here and the paper is here), to vitamin B12 deficiency being picked up in cases of autism (see here), to the very much under-investigated issue of methylmalonic acid (MMA) alongside cases of autism (see here). Slightly outside of autism research, vitamin B12 has also been discussed with thin-fat bodies in mind (see here) and its relationship with the epigenome.Given also the connection between vitamin B12 and that other B-vitamin of the moment with autism in mind, folic acid, this post turns out to be quite timely.Whilst there is not a great expanse of literature on the topic of vitamin B12 and autism, there are a few other points worth noting:Not all vitamin B12 is equal (or some are more equal than others, to coin a phrase). As with the example of folic acid, vitamin B12 can appear in more than one form (the so-called vitamers) seemingly also related to how we ingest/supplement with the stuff and what form our body actually use.Methyl B12 (methylcobalamin) has been looked at as a possible intervention for cases of autism as per the study by Bertoglio and colleagues***. The results on that occasion were not exactly universally successful in terms of behavioural outcomes, although there was the suggestion of a sub-group of possible responders to this intervention. Indeed based on an abstract presented at IMFAR 2012, it appears that responders might be linked to another favourite topic of this blog, glutathione (see here).The combinatorial use of methylcobalamin and another compound of interest, folinic acid (see this post) has also been the topic of some investigation with autism in mind as reported by Jill James and colleagues**** (open-access). The intervention appeared to affect several important biochemical parameters but some unanswered questions on clinical outcome remained.Although seemingly unrelated to vitamin B12, I was alerted to a recent study by Parks and colleagues***** on how specific strains of bacteria have the ability to turn inorganic mercury into methylmercury. Whilst this biochemical process may not initially seem particularly exciting or relevant to this post, when you conisder the role of cobalmin (vitamin B12) in this process (as per the result reported by Choi and Bartha****** for example and the action of being a methyl donor), one becomes slightly more interested in light of reports of elevated heavy metals being present in cases of autism and of course all that gut bacteria work being undertaken. I'm not making too much of this research at the moment despite it being mentioned by others, aside from illustrating how even vitamins are pharmaceutics and their use should be treated as such.Accepting again that the literature on vitamin B12 and autism is not exactly voluminous, there are some interesting strands of research which potentially connect the two things together requiring much greater study. Outside of the autism connection (or not), vitamin B12 has some interesting links with other things such as propionic acid for example (itself covered in separate posts on this blog, see here and here) which might also be a source of discussion.One of the main drawbacks of supplementing with vitamin B12 (or specifically methyl B12) where indicated is the requirement for delivery by subcutaneous injection. This might be OK if you are used to repeated injections such as those required for type 1 diabetes for example, but probably a little more invasive if you're not used to having them, given also that children with autism in particular might not be too taken with visiting the doctor or indeed other healthcare professionals such as the dentist.Without making any recommendations or anything like that, one would assume that some kind of reformulation might be possible to 'rebrand' methly B12 to make it more palatable, either based on ... Read more »