What is lecithin-cholesterol acyltransferase (LCAT) deficiency?

Updated: Oct 16, 2019
  • Author: Catherine Anastasopoulou, MD, PhD, FACE; Chief Editor: George T Griffing, MD  more...
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Lecithin-cholesterol acyltransferase (LCAT) is a lipoprotein-associated enzyme which plays a large role in the esterification of free cholesterol, the maturation of high density-lipoprotein (HDL) particles, and the intravascular stage of reverse cholesterol transport (RCT). LCAT is an enzyme bound to HDLs and low-density lipoproteins (LDLs) in the plasma. LCAT catalyzes the formation of cholesterol esters in lipoproteins as follows:

unesterified cholesterol + phosphatidylcholine → cholesterol ester + lysophosphatidylcholine

The two familial forms of LCAT deficiency are termed familial LCAT deficiency (complete LCAT deficiency) and fish eye disease (partial LCAT deficiency). Familial LCAT deficiency (FLD), first reported in 1967 in a Norwegian family, is characterized by the absence of LCAT activity towards HDL and LDL. Fish eye disease, initially described in two families of Swedish origin, is characterized by the absence of LCAT activity towards HDL only.

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