Structural Studies on Serum Lipoproteins in Homozygotes and Heterozygotes for the Lecithin: Cholesterol Acyltransferase Deficiency Gene

Abstract

Lipoprotein fractions obtained from patients suffering from lecithin: cholesterol acyltransferase (LCAT) deficiency and their mother have been studied by electron microscopy. Structurally abnormal lipoproteins were found in high density and low density lipoprotein fractions of the patients. The method is not suited for identification of carriers of the LCAT deficiency gene, since the lipoproteins of the mother appeared to be structurally normal.

Key Words:

• Electron microscopy
• heterozygotes
• high density lipoprotein
• inborn error
• lecithin
• cholesterol acyltransferase deficiency
• low density lipoprotein