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Physiology · Gastrointestinal: abetalipoproteinaemia
Sample itemA child with steatorrhoea, acanthocytes and absent serum chylomicrons and LDL has a biopsy in which the enterocytes are filled with fat droplets. What is the defect?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Failure to assemble apolipoprotein B-containing lipoproteins in the enterocyte
Without microsomal triglyceride transfer protein, enterocytes cannot assemble chylomicrons with apolipoprotein B-48, so absorbed fat is trapped. Fat-soluble vitamin deficiency follows, and spur cells appear in the blood.
Option by option
A. Failure to assemble apolipoprotein B-containing lipoproteins in the enterocyte (correct)
Correct. Chylomicron assembly fails, so fat accumulates in the enterocyte.
B. Absent pancreatic lipase
Lipase deficiency would leave fat in the lumen and the enterocytes would not be loaded.
C. Defective bile salt synthesis
Bile salt defects reduce micelle formation, and chylomicrons would still be made.
D. Absent brush border lactase
Lactase deficiency causes osmotic diarrhoea, not fat malabsorption.
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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