Abstract
The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol.
Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adult
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Animals
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Cardiovascular Diseases / blood
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Cardiovascular Diseases / enzymology
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Cardiovascular Diseases / etiology*
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Cardiovascular Diseases / genetics
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Cholesterol Esters / blood
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Cholesterol, HDL / blood
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Female
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Genetic Predisposition to Disease
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Humans
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Hypoalphalipoproteinemias / blood
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Hypoalphalipoproteinemias / enzymology
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Hypoalphalipoproteinemias / etiology*
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Hypoalphalipoproteinemias / genetics
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Lecithin Cholesterol Acyltransferase Deficiency / blood
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Lecithin Cholesterol Acyltransferase Deficiency / complications*
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Lecithin Cholesterol Acyltransferase Deficiency / enzymology
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Lecithin Cholesterol Acyltransferase Deficiency / genetics*
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Male
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Middle Aged
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Mutation*
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Phenotype
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Phosphatidylcholine-Sterol O-Acyltransferase / genetics*
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Risk Assessment
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Risk Factors
Substances
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Cholesterol Esters
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Cholesterol, HDL
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Phosphatidylcholine-Sterol O-Acyltransferase