A novel genetic disorder, normotriglyceridemic abetalipoproteinemia, is characterized by the selective deletion of the hepatogenous B-100 apolipoprotein with sparing of the intestinal B-48 apolipoprotein.
Case Report (n=1)
No
The identification of normotriglyceridemic abetalipoproteinemia demonstrates that apolipoprotein B-100 and B-48 are under separate genetic control and that LDL is not normally derived from chylomicrons.
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.
Malloy et al. (Fri,) conducted a case report in Normotriglyceridemic abetalipoproteinemia (n=1). Absence of B-100 apolipoprotein vs. Normal controls was evaluated on Lipoprotein and apolipoprotein composition. A novel genetic disorder, normotriglyceridemic abetalipoproteinemia, is characterized by the selective deletion of the hepatogenous B-100 apolipoprotein with sparing of the intestinal B-48 apolipoprotein.
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