Lecithin-Cholesterol Acyltransferase Deficiency

Excerpt

Lecithin cholesterol acyltransferase (LCAT) deficiency is a rare inherited syndrome characterized by the partial or complete absence of LCAT enzyme activity. LCAT is an enzyme attached to both high-density lipoprotein (HDL) and low-density lipoprotein (LDL) particles and is responsible for the esterification of cholesterol, a crucial step in the metabolism of HDL particles. Deficiency of LCAT leads to impaired HDL metabolism, resulting in abnormal lipid profiles and predisposing to complications. There are 2 clinical variants of the disease. The first is familial LCAT deficiency that involves a complete deficiency of the enzyme. The second is Fish-eye disease characterized by a partial deficiency of the enzyme.