Further observations on familial hypobetaliproteinaemia.
A family with hypobetalipoproteinaemia with 10 affected members is described. In six patients low density lipoprotein cholesterol (LDL-c) concentrations were about 10 % of normal. In four LDL-c was reduced to about 50 % of normal; these four patients probably represent the "intermediate" form of hypobetalipoproteinaemia. This variation in total cholesterol concentration and LDL-c among the affected individuals of the same family could reflect differences of expression in a single aberrant gene or additive expression of a gene at a second locus.
D000012:Abetalipoproteinemia / Q000235:genetics*; D000328:Adult; D002338:Carotenoids / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D008055:Lipids / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010743:Phospholipids / Q000097:blood; D014801:Vitamin A / Q000097:blood
D008055:Lipids; D008077:Lipoproteins, LDL; D010743:Phospholipids; D014801:Vitamin A; D002338:Carotenoids; D002784:Cholesterol