Medical College of Wisconsin
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Mesh term Lecithin Cholesterol Acyltransferase Deficiency

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Hypoalphalipoproteinemias

Description

An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.



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