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Biochemistry · Vitamins: vitamin E deficiency
Sample itemA 6-year-old boy has fat malabsorption since infancy, acanthocytes on the blood film, very low plasma cholesterol and absent apolipoprotein B. He now has progressive ataxia and areflexia. Which vitamin deficiency chiefly accounts for the neurological disease?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Vitamin E
Abetalipoproteinaemia results from loss of microsomal triglyceride transfer protein, so chylomicrons and VLDL cannot be assembled. Fat-soluble vitamins are poorly absorbed and transported; vitamin E deficiency produces spinocerebellar ataxia, areflexia and retinopathy through membrane lipid peroxidation. High-dose vitamin E is part of treatment.
Option by option
A. Vitamin E (correct)
Correct. Without lipoprotein transport, vitamin E deficiency injures large-fibre neurons.
B. Vitamin C
Vitamin C deficiency causes scurvy, with collagen defects and bleeding.
C. Thiamine
Thiamine deficiency causes beriberi and Wernicke encephalopathy and is not related to lipid malabsorption.
D. Vitamin B12
Vitamin B12 deficiency causes subacute combined degeneration and macrocytosis, and is not caused by apoB loss.
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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