Assmann_1991_Curr.Opin.Lipidol_2_110

Familial lecithin: cholesterol acyltransferase (LCAT) deficiency and fish-eye disease are rare autosomal recessively inherited disorders, which have in common severely reduced plasma concentrations of high-density lipoprotein cholesterol. Although both conditions originate from defects at the LCAT gene, their clinical and biochemical phenotypic expression is highly variable, presumably because of differently impaired activities and/or substrate specifities within the enzyme.