Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein

In the two genetic forms of abetalipoproteinemia described previously, recessive abetalipoproteinemia and homozygous hypobetalipoproteinemia, all lipoproteins that normally contain apolipoprotein B are absent from plasma. We describe here a new disorder in which normal low density and very low densi...

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Bibliographic Details
Published in:The Journal of clinical investigation 1981-05, Vol.67 (5), p.1441-1450
Main Authors: Malloy, M J, Kane, J P, Hardman, D A, Hamilton, R L, Dalal, K B
Format: Article
Language:English
Subjects:
Apolipoproteins - deficiency
Apolipoproteins - genetics
Apolipoproteins B
Child
Chylomicrons - metabolism
Dietary Fats - metabolism
Female
Humans
Intestinal Absorption
Lipoproteins, LDL - deficiency
Lipoproteins, VLDL - deficiency
Molecular Weight
Phospholipids - metabolism
Triglycerides - blood
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Summary:In the two genetic forms of abetalipoproteinemia described previously, recessive abetalipoproteinemia and homozygous hypobetalipoproteinemia, all lipoproteins that normally contain apolipoprotein B are absent from plasma. We describe here a new disorder in which normal low density and very low density lipoproteins are absent, but in which triglycerides are absorbed from the intestine and chylomicrons are present in plasma. The underlying molecular defect appears to be selective deletion of the hepatogenous B-100 apolipoprotein. The B-48 apolipoprotein found in chylomicrons is spared. These findings suggest that the two species of apolipoprotein B are under separate genetic control and that low density lipoproteins are not normally derived from chylomicrons.
ISSN:0021-9738
DOI:10.1172/JCI110173