Effects of plasma infusion on plasma lipids, apoproteins and plasma enzyme activities in familial lecithin: cholesterol acyltransferase deficiency.
The siblings presented here are the third family found in Japan with familial LCAT deficiency. Their post-heparin plasma lipoprotein lipase and hepatic triglyceride lipase activities were measured selectively by an immunochemical method. Plasma triglyceride levels were elevated, and post-heparin plasma lipoprotein lipase was decreased only in a patient with nephropathy, while hepatic triglyceride lipase activities were within reference limits in both patients. The plasma concentrations of apo A-I, apo A-II, and apo B were reduced in both patients. On the other hand, the plasma concentration of apo E was markedly increased. Enzyme replacement therapy by plasma transfusion in the propositus resulted in marked improvement of deranged compositions of triglyceride-rich lipoproteins. Also, improvement of the plasma apo E concentration was demonstrated, while the improvement of post-heparin lipase did not occur. These results suggest that LCAT may play an important physiological role in triglyceride metabolism as well as in cholesterol metabolism.
D001059:Apoproteins / Q000097:blood*; D001803:Blood Transfusion; D002784:Cholesterol / Q000097:blood; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood*; D007674:Kidney Diseases / Q000097:blood / Q000201:enzymology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood* / Q000201:enzymology; D008049:Lipase / Q000097:blood; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D010949:Plasma; D014280:Triglycerides / Q000097:blood
D001059:Apoproteins; D008055:Lipids; D008074:Lipoproteins; D014280:Triglycerides; D002784:Cholesterol; D008049:Lipase