Lecithin:cholesterol acyltransferase deficiency
Definition:
Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria.
References:
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[1]. Lars Berglund, et al. Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms. Arterioscler Thromb Vasc Biol. 2006 Jun;26(6):1201-3. [Content Brief]
[2]. Masato Nishiwaki, et al. Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X. Arterioscler Thromb Vasc Biol. 2006 Jun;26(6):1370-5. [Content Brief]
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