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Pathology · Haematology: vitamin B12 deficiency
Sample itemA 62-year-old woman has MCV 118 fL, hypersegmented neutrophils, tingling of the feet and loss of vibration sense. Which biochemical pattern would be expected, and would distinguish her cause from folate deficiency?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Raised homocysteine and raised methylmalonic acid
Vitamin B12 is a cofactor for methionine synthase (homocysteine to methionine) and for methylmalonyl-CoA mutase. Deficiency therefore raises both homocysteine and methylmalonic acid, and causes subacute combined degeneration through defective myelin. Folate deficiency raises homocysteine only, and does not typically cause the neurological damage seen with B12 deficiency.
Option by option
A. Raised homocysteine and raised methylmalonic acid (correct)
Correct. B12 deficiency impairs both enzymes, so both metabolites rise.
B. Normal homocysteine with raised methylmalonic acid
Normal homocysteine with raised methylmalonic acid would suggest an isolated mutase defect, such as inherited methylmalonic aciduria.
C. Normal homocysteine and normal methylmalonic acid
Normal levels of both would argue against a functional deficiency of B12 or folate.
D. Raised homocysteine with normal methylmalonic acid
Raised homocysteine with normal methylmalonic acid is seen in isolated folate deficiency.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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