Physiopathology of vitamin B12 deficiency and its laboratorial diagnosis

INTRODUCTION: The vitamin B12 is a water soluble vitamin, not synthetized by humans organisms, found in foods of animal origin. Its deficiency is very frequent among old people, vegetarians, subjects who use a low protein diet, or who present gastrointestinal absorption failure. PHYSIOPATHOLOGY: The vitamin B12 deficiency leads to hematologic, neurophatologic and cardiovascular disorders, mainly by interfering in the homocysteine (Hcy) metabolism and in the methylation reactions of organism. Often, the deficiency can remain without symptoms for long time, leading to a chronic deficiency that, if not treated, may yield irreversible neurologic manifestations. METHODOLOGY: Efficient methodologies that allow the early diagnosis are essential. However, a gold standard method is not consensus yet. The vitamin B12 serum measurement presents some restrictions for problems of sensitivity and specificity, being able to occur deficiency’s symptoms even the serum vitamin B12 being in normal range or, in another way, occurring low levels of serum vitamin B12 without, however, showing low levels of vitamin B12 fraction really available for the cells and without showing symptoms. New alternatives come appearing, as the transcobalamin II measurement, the only vitamin B12 fraction available for the cells or the methylmalonic acid and Hcy measurement, metabolites that increase when intracellular vitamin B12 decreases. These tests present some advantages, but also important limitations for use in the routine. CONCLUSION: In the sub clinical cases, a correct and early diagnosis represents still a challenge and further studies are needed to define the best method for routine laboratorial diagnosis of vitamin B12 deficiency.

Vitamin B12; Diagnosis; Serum; Transcobalamins; Hyperhomocysteinemie; Methylmalonic acid


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