Lecithin Cholesterol Acyltransferase Deficiency

**Definition:** 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.

**Tree numbers:** - C16.320.565.398.500.330.500 - C18.452.584.500.875.330.500 - C18.452.584.563.500.330.500 - C18.452.648.398.500.330.500

**Synonyms:** - Lecithin:Cholesterol Acyltransferase Deficiency - alpha-Lecithin-Cholesterol Acyltransferase Deficiency - alpha-LCAT Deficiency - LCATA Deficiency - alpha-Lecithin:Cholesterol Acyltransferase Deficiency - LCAT Deficiency - Norum Disease