Hereditary plasma lecithin-cholesterol acyl transferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities.
LCAT esterifies cholesterol to cholesterol ester. This study describes a family with plasma LCAT deficiency with a heterozygous variant. It was found that both parents and one son had half the normal plasma LCAT activity whereas their only daughter and other son exhibited zero plasma LCAT activity, suggesting an autosomal co-dominant inheritance of the enzyme deficiency. Erythrocyte membrane abnormalities (e.g., increased erythrocyte PC and cholesterol) that were associated with patients with zero plasma LCAT were also observed in family members with half the LCAT. Additionally, erythrocytes from LCAT-deficient individuals were more susceptible to peroxidant threat and had membranes that were more mechanically unstable than those from individuals with normal plasma LCAT activity.
D000328:Adult; D002784:Cholesterol / Q000378:metabolism*; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000032:analysis / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006579:Heterozygote; D006801:Humans; D006861:Hydrogen Peroxide; D007009:Hypolipoproteinemias / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010713:Phosphatidylcholines / Q000378:metabolism*
D005227:Fatty Acids; D008055:Lipids; D010713:Phosphatidylcholines; D002784:Cholesterol; D006861:Hydrogen Peroxide