Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease.
The phospholipase A2 and acyltransferase activities characteristic of human plasma lecithin: cholesterol acyltransferase have been evaluated in incubation mixtures of lipoprotein depleted plasma of fish eye disease patients and autologous HDL or homologous normal HDL3. Both enzyme activities were strongly reduced as compared to those of normal controls. These findings further support the claim that fish eye disease plasma has a specific lack of high density lipoprotein lecithin:cholesterol acyltransferase (alpha-LCAT deficiency), although the cholesterol esterification of combined VLDL and LDL in such plasma proceeds at a normal rate.
D000217:Acyltransferases / Q000097:blood / Q000172:deficiency*; D003318:Corneal Opacity / Q000097:blood* / Q000201:enzymology; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood* / Q000201:enzymology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood*; D008075:Lipoproteins, HDL / Q000097:blood*; D053440:Lipoproteins, HDL3; D010740:Phospholipases / Q000172:deficiency*; D010741:Phospholipases A / Q000097:blood / Q000172:deficiency*; D054467:Phospholipases A2
D008075:Lipoproteins, HDL; D053440:Lipoproteins, HDL3; D000217:Acyltransferases; D010740:Phospholipases; D010741:Phospholipases A; D054467:Phospholipases A2