Lecithin Cholesterol Acyltransferase Deficiency


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.