Lecithin Cholesterol Acyltransferase Deficiency
Synonyms
Acyltransferase Deficiency, Lecithin:Cholesterol
Corneal Dystrophy, Dyslipoproteinemic
Deficiency, LCAT
Deficiency, alpha-LCAT
Dyslipoproteinemic Corneal Dystrophy
Fish Eye Disease
Fish-Eye Disease
LCAT Deficiency
LCATA Deficiencies
LCATA Deficiency
Lecithin:Cholesterol Acyltransferase Deficiency
Norum Disease
alpha LCAT Deficiency
alpha-LCAT Deficiency
alpha-Lecithin-Cholesterol Acyltransferase Deficiency
alpha-Lecithin:Cholesterol Acyltransferase Deficiency
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.