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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Fish-eye disease ： ウィキペディア英語版 Fish-eye disease Fish-eye disease is a genetic disorder involving a deficiency in lecithin—cholesterol acyltransferase (LCAT) metabolism. While LCAT metabolism in familial LCAT deficiency is fully inactive, patients with fish-eye disease only have a partial deficiency of LCAT.〔 Carlson and Philipson found that the disease was named so because the cornea of the eye was so opaque or cloudy with dots of cholesterol that it resembled a boiled fish. The disorder is inherited in an autosomal recessive manner. Therefore both copies of the gene in each cell must have a mutation; if an individual only carry one copy of the mutated gene, they typically do not show symptoms. Fish-eye disease is characterized by abnormalities like visual impairment, plaques of fatty material, and dense opacification.〔〔 It is uncertain if LCAT deficiencies are linked to coronary artery disease.〔 == Biochemistry of LCAT == The LCAT glycoprotein produces lysophosphatidylcholine and cholesterol ester and binds to lipoproteins after being secreted by the liver.〔 Usually the enzyme produced is responsible for cholesterol ester formation and high density lipoprotein (HDL) metabolism, but in fish-eye disease the enzyme cannot esterify, or make the acid into an alkyl, cholesterol in HDL particles.〔 However, there is only a partial deficiency because the enzyme remains active on the cholesterol particles in very low density lipoproteins (VLDL) and low density lipoproteins (LDL).〔 The opaqueness of the eye is caused by the deposit of lipids onto the cornea.〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Fish-eye disease」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.