Lecithin-cholesterol acyltransferase deficiency, LCAT (medical condition)

A rare genetic disorder characterized by an enzyme deficiency (lecithin:cholesterol acyltransferase) which impairs the breakdown of lipoproteins which then builds up and causes damage to tissues. The condition is characterized by corneal disorders, anemia, protein in the urine and ultimately, kidney failure. Partial deficiency of the enzyme (alpha-LCAT) results in a condition called Fish-Eye disease whereas deficiency of the whole enzyme (alpha- and beta-LCAT) causes a condition called Norum disease. See also Lecithin-cholesterol acyltransferase deficiency, LCAT