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Effects of plasma infusion on plasma lipids, apoproteins and plasma enzyme activities in familial lecithin: cholesterol acyltransferase deficiency
Author(s) -
MURAYAMA N.,
ASANO Y.,
KATO K.,
SAKAMOTO Y.,
HOSODA S.,
YAMADA N.,
KODAMA T.,
MURASE T.,
AKANUMA Y.
Publication year - 1984
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/j.1365-2362.1984.tb02100.x
Subject(s) - lipoprotein lipase , endocrinology , medicine , triglyceride , hepatic lipase , chemistry , lipase , lecithin , triglyceride lipase , heparin , apolipoprotein b , cholesterol , enzyme , biochemistry
Abstract. 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.