Monday 4 March 2013

Vitamin B12 and autism: more to do

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:

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 a cream, even something like a microneedle preparation or some other transdermal delivery system******* as per other recent news in an unrelated area.

The emphasis however has to be on the requirement for further research in this area and an extension of the notion that a diagnosis of autism or conditions which manifest as autistic symptoms, are seemingly protective of nothing when it comes to other conditions or physiological states including the presence of things like vitamin B12 deficiency.

A song to finish. Sunday Bloody Sunday by U2.


* Malhotra S. et al. Brief report: Childhood disintegrative disorder as a likely manifestation of vitamin B12 deficiency. J Autism Dev Disord. January 2013.

** Dror DK. & Allen LH. Effect of vitamin B12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms. Nutr Rev. 2008; 66: 250-255.

*** Bertoglio K. et al. Pilot study of the effect of methyl B12 treatment on behavioral and biomarker measures in children with autism. J Altern Complement Med. 2010; 16: 555-560.

**** James SJ. et al. Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism. Am J Clin Nutr. 2009; 89: 425-430.

***** Parks JM. et al. The genetic basis for bacterial mercury methylation. Science. January 2013.

****** Choi S-C. & Bartha R. Cobalamin-mediated mercury methylation by
Desulfovibrio desulfuricans LS. Appl Environ Microbiol. 1993; 59: 290-295.

******* Madhaiyan K. et al. Vitamin B(12) loaded polycaprolactone nanofibers: A novel transdermal route for the water soluble energy supplement delivery. Int J Pharm. January 2013.

---------- Malhotra S, Subodh BN, Parakh P, & Lahariya S (2013). Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency. Journal of autism and developmental disorders PMID: 23334842

1 comment:

  1. Thanks for the comment Roger. A very interesting history indeed.

    I'm very interested in the work from Dr Frye and colleagues on the folate receptor autoantibodies and the potentuial implications of that work

    (see here:

    not least because, as you point out, of the link with milk.


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