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Biochemistry · Lipoproteins: dyslipidaemia
Sample itemA child has recurrent abdominal pain, eruptive xanthomas and lipaemia retinalis. The plasma is creamy, with a milky layer on standing at 4 degrees and a clear infranatant. Which enzyme is likely deficient?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Lipoprotein lipase (or its cofactor apo C-II)
Lipoprotein lipase deficiency (familial chylomicronaemia, type I) prevents clearance of chylomicrons, which float as a cream layer. Triglycerides are very high, causing pancreatitis, eruptive xanthomas and lipaemia retinalis. Cholesterol is only mildly raised.
Option by option
A. LDL receptor
LDL receptor deficiency causes familial hypercholesterolaemia with tendon xanthomas.
B. Apolipoprotein B-100 binding domain
Apo B-100 defects also raise LDL, not chylomicrons.
C. Lipoprotein lipase (or its cofactor apo C-II) (correct)
Correct. Chylomicrons cannot be hydrolysed.
D. LCAT
LCAT deficiency causes corneal opacities and anaemia with low HDL.
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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