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Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome.
Pernicious anemia is the most common cause of vitamin B 12 deficiency anemia in adults, which results from malabsorption of vitamin B 12 due to a lack or loss of intrinsic factor. [2] [8] There are relatively few studies which have assessed the impact of haematological measures in response to B 12 supplementation.
[6] [15] [26] Vitamin B 12 deficiency can also cause symptoms of mania and psychosis. [27] [28] Among other problems, weakened immunity, reduced fertility and interruption of blood circulation in women may occur. [29] The main type of vitamin B12 deficiency anemia is pernicious anemia, [30] characterized by a triad of symptoms:
Neuropsychiatric symptoms can precede hematological signs and are often the presenting manifestation of the disease. [55] Vitamin B 12 serum levels are used to detect its deficiency, but do not distinguish its causes. Vitamin B 12 levels can be falsely high or low and data for sensitivity and specificity vary widely.
Small intestine : major site of absorption. Symptoms can manifest in a variety of ways and features might give a clue to the underlying condition. Symptoms can be intestinal or extra-intestinal - the former predominates in severe malabsorption. [citation needed] Diarrhoea, often steatorrhoea, is the most common feature. Watery, diurnal and ...
Vitamin B12 deficiency symptoms . Vitamin B12 deficiency has a few hallmark symptoms, according to doctors: Lack of energy. Mental fatigue. Nausea, vomiting, or diarrhea. Lack of appetite. Weight loss
Atrophic gastritis can also cause intrinsic factor deficiency and anemia through damage to the parietal cells of the stomach wall. [16] Pancreatic exocrine insufficiency can interfere with normal dissociation of vitamin B 12 from its binding proteins in the small intestine, preventing its absorption via the intrinsic factor complex. [17]
Dietary deficiency of vitamin B 12 occurring in strict vegetarians and in their breastfed infants (isolated vitamin B 12 deficiency is very rare) Malabsorption of vitamin B 12 resulting from damage to the stomach, where intrinsic factor is secreted, or damage to the ileum, where intrinsic factor facilitates vitamin B 12 absorption.