A new case of familial LCAT deficiency.
Twenty-eight patients with familial lecithin:cholesterol acyltransferase deficiency have been reported to date. We report a new Italian case who presents the clinical and biochemical characteristics of the disease. Typical disc-shaped high density lipoproteins (d = 1.063-1.21 g/ml) were detected by electron microscopy. An abnormal distribution of apolipoproteins in the different lipoprotein fractions was found by sodium dodecyl sulphate polyacrylamide electrophoresis.
D000293:Adolescent; D001053:Apolipoproteins / Q000097:blood; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000097:blood; D008297:Male; D008854:Microscopy, Electron
D001053:Apolipoproteins; D008075:Lipoproteins, HDL