Diseases, Disorders information

B12 deficiency; extremely unusual unless you have someone who has a congenital defect in absorption of B12. There’s a syndrome called Imerslund syndrome which is a congenital failure to be able to absorb vitamin B12 in the terminal ileum because they lack the binding sites in the terminal ileum for the B12. They typically present at about one year of age with these characteristics, as well as they get posterior column diseases and mental changes because of the B12 deficiency. When else can you see it? If an infant has the ileum resected and the physician is not aware of it, or it has not been tested for, they can become B12 deficient. Remember, you are born with B12 stores for up to a year at birth. Obviously after later on in childhood if the ileum is resected, most people have 3-5 years worth of stores of vitamin B12 present in the body.
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Ascorbic acid deficiency, or scurvy. Again, these are the characteristics of it; poor wound healing, which is very similar to what you see in essential fatty acid deficiency. Be aware that bleeding problems, which also can be seen in essential fatty acid deficiency, are characteristic of it. Easy fracture of bones. Bleeding gingiva with loose teeth perhaps in the older child. So many of these conditions have overlaps between them and sometimes you are asked to show the similarities or the differences between them.
Niacin deficiency is probably the easiest; dermatitis, diarrhea and dementia. And the dermatitis is typically in areas where there has been exposure to the sun. So I used to have a picture of a child with pellagra and it’s disappeared, but it basically showed a youngster who had what looked like a necklace in the neck area and also on the wrist. This patient had sort of a reddish-magenta kind of eruption and that was due to niacin deficiency.
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Folate deficiency. These patients get a macrocytic anemia. They are very much like patients with B12 deficiency. So they get big red blood cells, but different than patients with B12 deficiency syndrome, they get leukopenic, poor growth and gliacitis. Again, they have overlap with patients who have vitamin B and B2 deficiency, and also pyridoxine deficiency. Diarrhea is another characteristic of folate deficiency. The folate is very important for the integrity of the intestinal mucosa. If you get folate deficient, patients are very likely to have leakage from their mucosa and failure to regenerate normal epithelium. The only formula that is deficient in folate normally is goats milk, but if you feed … most of the preparations that are available for children who are fed goats milk are folate-supplemented because we recognize that deficiency.