I think this is intriguing (posted below). I haven’t pulled the paper. Here is a rare genetic disease where they have just now discovered that there is a B12 deficiency. The B12 deficiency could account for many of the symptoms of the syndrome.
This is something we have been saying for a while, but see abstract below. There is really no good clinical test for B12 deficiency. The tests that doctors run in the lab just really aren’t that good. Couple that to the fact that they (obviously) only measure blood levels of B12 and not how much B12 is getting into the nervous system.
The B12 piece in PWS could be big. A functional B12 deficiency could cause many of the symptoms of PWS. Fixing any deficiency would be a low cost/low risk intervention.
European Journal of Clinical Nutrition 67, 1118 (October 2013) | doi:10.1038/ejcn.2013.140 Pancytopenia from severe cobalamin (Vitamin B12) deficiency in Johanson–Blizzard syndrome S Aubrey, B Crooks and M Rashid Abstract Johanson–Blizzard syndrome is a rare autosomal recessive disorder characterized by nasal, auditory and dental abnormalities, and exocrine pancreatic insufficiency.1 These patients require oral pancreatic enzyme replacement and fat-soluble vitamin supplements.2
Subcell Biochem. 2012;56:301-22. doi: 10.1007/978-94-007-2199-9_16. Cobalamin deficiency. Herrmann W, Obeid R. Source Department of Clinical Chemistry and Laboratory Medicine, University of Saarland, 66421, Homburg, Germany, firstname.lastname@example.org. Abstract Cobalamin (Cbl, vitamin B12) consists of a corrinoid structure with cobalt in the centre of the molecule. Neither humans nor animals are able to synthesize this vitamin. Foods of animal source are the only natural source of cobalamin in human diet. There are only two enzymatic reactions in mammalian cells that require cobalamin as cofactor. Methylcobolamin is a cofactor for methionine synthase. The enzyme methylmalonyl-CoA-mutase requires adenosylcobalamin as a cofactor. Therefore, serum concentrations of homocysteine (tHcy) and methylmalonic acid (MMA) will increase in cobalamin deficiency. The cobalamin absorption from diet is a complex process that involves different proteins: haptocorrin, intrinsic factor and transcobalamin (TC). Cobalamin that is bound to TC is called holotranscobalamin (holoTC) which is the metabolically active vitamin B12 fraction. HoloTC consists 6 and 20% of total cobalamin whereas 80% of total serum cobalamin is bound to another binding protein, haptocorrin. Cobalamin deficiency is common worldwide. Cobalamin malabsorption is common in elderly subjects which might explain low vitamin status. Subjects who ingest low amount of cobalamin like vegetarians develop vitamin deficiency. No single parameter can be used to diagnose cobalamin deficiency. Total serum cobalamin is neither sensitive nor it is specific for cobalamin deficiency. This might explain why many deficient subjects would be overlooked by utilizing total cobalamin as status marker. Concentration of holotranscobalamin (holoTC) in serum is an earlier marker that becomes decreased before total serum cobalamin. Concentrations of MMA and tHcy increase in blood of cobalamin deficient subjects. Despite limitations of these markers in patients with renal dysfunction, concentrations of MMA and tHcy are useful functional markers of cobalamin status. The combined use of holoTC and MMA assays may better indicate cobalamin status than either of them. Because Cbl deficiency is a risk factor for neurodegenerative diseases an early diagnosis of a low B12 status is required which should be followed by an effective treatment in order to prevent irreversible damages.
For the most part I think that B12 shots are much more effective than oral vitamins. I just had an experience, though, that got me thinking. My son is now 9. I gave him his first revitapop - B12 lollipop.
So, here’s what happened when we gave one to him. Note that it was at the end of a longish day for him. It was 6:00 and before dinner and he had accidentally missed one of his snacks and was feeling funky and sulky and not very talkative (odd for him). We gave him a cup of coconut milk and then told him he could have the lollipop.
He was very happy to get the lollipop. It was a completely unexpected treat. So, I am sure he got a bounce from just the idea of the treat. He also knew that there was B12 in the lollipop and it might make him feel weird – good or bad. I wasn’t clear.
Within minutes he started talking, a lot – way too much, actually. I also think that his articulation was better. I tested him on some of his speech homework and he nailed it, easily.
I was making dinner, he was sucking on the lollipop and talking my ear off. Then he started hopping on one leg in a vigorous circle around the island in our kitchen. He has never done this before. Actually, I have never seen him hop on one leg before. I asked him if this was something new. He said, yes, he could not do it before. I asked him to do it on the other leg. He could. I asked him to skip down the hall. He could. He skipped very well and was buoyant and maybe even graceful. He then showed me how fast he could run. He ran well.
I asked him why he could do those things. He said that his legs were less sore. Normally his leg muscles and joints are sore and it hurts to move. Now it feels good to move. Also, he said his balance was better. I asked him why he started hopping around in the first place. He said that he could feel strength coming through his body and so he started hopping. This was maybe 5-10 minutes into sucking on the lollipop.
I tried playing catch with him. At first he did his old way of catching the stuffed animal by hugging it to his body. I told him to catch with his hands. The first time he missed. After that, for the most part, he caught with his hands. This was the best catching and throwing that he has done with me. He seemed very surprised by his success.
I asked him if his upper body also felt better. He said yes and did a few pushups. They looked good, but to be honest, I haven’t seen him do pushups in a while and so I don’t know if they were an improvement. He assured me that they were.
I asked him to write something. His writing may be a bit better. I asked him math facts. His math facts have NOT improved.
He told me that he was no longer hungry. He said that he was hungry before the lollipop, but now he was no longer hungry. He didn’t finish his dinner. Partially, though, he was running around and talking so much, he just couldn’t be bothered to eat.
We had to rush off to a school thing for his big sister where we sat in the auditorium. He read a book for about 15 minutes and then took off his glasses, curled up and went to sleep. This was about 7:30, which was early for him. When we woke him 30 minutes later, he was clearly deep in a dream about the lollipop and was a bit disoriented.
He was fine the rest of the evening, took a shower and went to bed.
He seemed fine this morning. I should have run a battery of tests on him, but I didn’t. He didn’t seem extraordinary this morning. We decided to let him suck on a Revitapop on the 15 minute drive to school. He will wrap up the leftover and then have it maybe tonight.
Quite a story, huh?
BTW, I tried one and it did nothing for me.
B12 and myelination
I was emailing another mother about the B12 shot and I realized that there is a whole different aspect of it, that you all may now be starting to experience. I found it hard, but in the end good.
I think my son was 4 when we gave him his first B12 shot. (We did not test for deficiency first.) His body slowly came alive from the base of his neck to the bottom of his spine. It was unnerving. First it was his mouth. I had to carry dental floss with me because food would get caught in his teeth and HURT and he cried. That lasted a few days. Then I had to cut the tags out of every single shirt because the shirts were absolutely unwearable as they were. That lasted a few days and then went away. Then it was scratchy shirts and then it was hands that were driving him crazy. At the end I had him in for a urinary tract infection two days in a row. There was absolutely no sign of infection but the pain was UNBEARABLE.
This whole thing took about a year. It was a challenging year. It is hard when your child is crying because his hands hurt and everything feels rough.
At first I thought it was a side effect of the B12 shot, but it was a side effect that moved down his body. Dr. Charlie (pediatrician) was the one who pointed out that his body was coming alive from the top of his spine to the base of his spine and it mimicked the myelination pattern of a newborn. The pain was his peripheral nervous system "waking up."
I was intrigued and researched myelination and found that three critical components of myelination are: fat, iron, and B12.
Now the hard part of myelination is long over and Kian seems to have a normal body (at least in terms of his peripheral nervous system!).
So, those of you starting the shots with older kids, the poor little ones are probably integrating a lot right now. I think it will be much easier for parents who start the program with younger kids. That said, I want reports! The good, the bad, the ugly, and the beautiful! Let's make it easier for the parents of children born tomorrow.