Familial hyper-alpha-lipoproteinaemia. Further studies on serum lipoproteins and some serum enzymes.
Some new data are given concerning a family whose members are characterized by high levels of alpha-(HDL)-cholesterol. Data from the new members of the family, not previously studied, confirm that the defect is not associated with any cardiac or neurological defect nor with xanthomata. Studies performed to assess the polypeptide composition of HDL of the affected members resulted in completely normal results. The post-heparin lipolytic activity (PHLA), the liver lipase and the lecithin-cholesterol acyltransferase (LCAT) activities also proved to be within the normal limits.
D000217:Acyltransferases / Q000097:blood*; D000293:Adolescent; D000328:Adult; D001053:Apolipoproteins / Q000097:blood; D002648:Child; D002784:Cholesterol / Q000097:blood; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood* / Q000201:enzymology / Q000235:genetics; D008049:Lipase / Q000097:blood*; D008075:Lipoproteins, HDL / Q000097:blood*; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood*
D001053:Apolipoproteins; D005230:Fatty Acids, Nonesterified; D008075:Lipoproteins, HDL; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D002784:Cholesterol; D000217:Acyltransferases; D007862:Phosphatidylcholine-Sterol O-Acyltransferase; D008049:Lipase