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Clinical Chemistry 37: 296-300, 1991;
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Clinical Chemistry, Vol 37, 296-300, Copyright © 1991 by American Association for Clinical Chemistry

Heterozygous hypobetalipoproteinemia with fasting chylomicronemia

G Huet, MC Dieu, A Martin, G Grard, JM Bard, P Fossati and P Degand
Laboratoire de Biochimie, Hopital Claude Huriez, Lille, France.

We describe a disorder in which low-density lipoprotein (LDL)- cholesterol and apolipoprotein B are in low concentration (0.47 mmol/L and 0.28 g/L, respectively) and chylomicrons are still present in plasma after an 18-h fast. The d less than 1.006 fraction was isolated by flotation ultracentrifugation and the apolipoproteins were analyzed by electrophoresis, immunoblotting with anti-apolipoprotein B-100 antiserum, and isoelectric focusing. In the d less than 1.006 fraction of the fasting serum, we found an apolipoprotein B form with the same apparent molecular mass as apolipoprotein B-48 and similar in amount to apolipoprotein B-100 (respective percentages, 46% and 54%). The monosialylated form of the apolipoprotein C-III was severely decreased. After an oral fat load, the repartition of the two species of apolipoprotein B did not change greatly (respective percentages, 60% and 40%), and the concentration of serum triglyceride increased only from 1.20 to 1.65 mmol/L.




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Copyright © 1991 by the American Association for Clinical Chemistry.