LCATpuutteet
LCATpuutteet refers to a deficiency in the enzyme lecithin-cholesterol acyltransferase (LCAT). LCAT plays a crucial role in the metabolism of cholesterol, particularly in the process of reverse cholesterol transport. This enzyme esterifies cholesterol in high-density lipoproteins (HDL), converting free cholesterol into cholesteryl esters. These cholesteryl esters are then transported from peripheral tissues back to the liver for excretion.
There are two main forms of LCAT deficiency: familial LCAT deficiency (F-LCATD) and fish-eye disease (FED). F-LCATD
Fish-eye disease is a milder allelic variant also resulting from LCAT gene mutations, but with residual LCAT