B12 shots

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B12 Deficiency

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.

PAPER

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

NEXT PAPER

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, kchwher@uniklinik-saarland.de. 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.



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.