Heterozygous hypobetalipoproteinemia with fasting chylomicronemia.
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.
Huet
G
G
Laboratoire de Biochimie, Hôpital Claude Huriez, Lille, France.
Dieu
M C
MC
Martin
A
A
Grard
G
G
Bard
J M
JM
Fossati
P
P
Degand
P
P
D000328:Adult; D001054:Apolipoproteins A / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood*; D002648:Child; D002784:Cholesterol / Q000097:blood*; D002851:Chromatography, High Pressure Liquid; D002914:Chylomicrons / Q000097:blood*; D004586:Electrophoresis; D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics / Q000378:metabolism*; D015151:Immunoblotting; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D010743:Phospholipids / Q000097:blood
D001054:Apolipoproteins A; D001055:Apolipoproteins B; D002914:Chylomicrons; D010743:Phospholipids; D002784:Cholesterol