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Acyltransferase Deficiency, alpha-Lecithin:Cholesterol

An autosomal recessively inherited disorder caused by Mutation of Lecithin Cholesterol Acyltransferase that facilitates the Esterification of Lipoprotein Cholesterol and subsequent removal from peripheral Tissues to the liver. This defect results in low HDL-Cholesterol level in Blood and accumulation of free Cholesterol in Tissue leading to a triad of Corneal Opacity, Hemolytic Anemia (Anemia, Hemolytic), and Proteinuria.