Familial Plasma Cholesterol Ester Deficiency a study of the erythrocytes

Abstract

The erythrocytes of three sisters with plasma cholesterol ester deficiency and lack of plasma lecithin: cholesterol acyltransferase (LCAT) have been studied. The erythrocyte content of cholesterol was markedly increased. Their total lipid phosphorus was normal, lecithin being increased and phosphatidylethanolamine and sphingomyelin decreased. The fatty acid composition of the phospholipids was not normal as an increase in linoleic acid and a decrease in arachidonic and very long chain fatty acids were demonstrated. The absence of LCAT in plasma of the patients may explain the major lipid abnormalities of their red cells.

Key Words:

• Cholesterol
• enzymes
• erythrocytes
• lecithin
• cholesterol acyltransferase
• lecithins
• lipid metabolism
• inborn errors
• phospholipids