lecithin acyltransferase deficiency : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Lecithin Acyltransferase Deficiency - 새창 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.
Synonyms : Deficiency, Lecithin Acyltransferase, Dyslipoproteinemic Corneal Dystrophy, Fish-Eye Disease, LCAT Deficiency, Lecithin:Cholesterol Acyltransferase Deficiency, alpha-LCAT Deficiency, alpha-Lecithin-Cholesterol Acyltransferase Deficiency, Fish Eye Disease