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Lecithin Acyltransferase Deficiency

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Definition: An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.      Other names alpha Lecithin Cholesterol Acyltransferase Deficie; alpha LCAT Deficiency; Fish Eye Disease; Corneal Dystrophy, Dyslipoproteinemic; alpha-Lecithin-Cholesterol Acyltransferase Deficie; alpha-LCAT Deficiency; Lecithin:Cholesterol Acyltransferase Deficiency; LCAT Deficiency; Fish-Eye Disease; Dyslipoproteinemic Corneal Dystrophy; Deficiency, Lecithin Acyltransferase
 
SubstanceCAS Registry & nameCategoriesSource
Alpha-lecithin:cholesterol acyltransferase deficiency  0   *Lecithin Acyltransferase Deficiency.
Norum disease  0   *Lecithin Acyltransferase Deficiency.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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