An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.
Also Known As:
Lecithin:Cholesterol Acyltransferase Deficiency; Fish-Eye Disease; Dyslipoproteinemic Corneal Dystrophy; LCAT Deficiency; LCATA Deficiency; Norum Disease; alpha-LCAT Deficiency; alpha-Lecithin-Cholesterol Acyltransferase Deficiency; alpha-Lecithin:Cholesterol Acyltransferase Deficiency; Acyltransferase Deficiency, Lecithin:Cholesterol; Corneal Dystrophy, Dyslipoproteinemic; Deficiency, LCAT; Deficiency, alpha-LCAT; Fish Eye Disease; LCATA Deficiencies; alpha LCAT Deficiency