lecithin-cholesterol acyltransferase deficiency

LCAT欠損症 LCAT

WordNet

1. a yellow phospholipid essential for the metabolism of fats; found in egg yolk and in many plant and animal cells; used commercially as an emulsifier
2. an animal sterol that is normally synthesized by the liver; the most abundant steroid in animal tissues (同)cholesterin

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. レシチン(神経細胞や卵黄などに含まれるリン脂質)
3. コレステロール(胆汁・血液・神経組織などの脂肪性成分)

UpToDate Contents

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• 1. HDL代謝およびHDLコレステロール値異常の患者に対するアプローチ hdl metabolism and approach to the patient with abnormal hdl cholesterol levels
• 2. 成人における非アルコール性脂肪性肝疾患（NAFLD）の疫学、臨床的特徴、および診断 epidemiology clinical features and diagnosis of nonalcoholic fatty liver disease in adults
• 3. 棘状細胞（棘状赤血球および有棘赤血球）と標的細胞 spiculated cells echinocytes and acanthocytes and target cells
• 4. アルコール性脂肪性肝炎およびアルコール性肝硬変の臨床症状および診断 clinical manifestations and diagnosis of alcoholic fatty liver disease and alcoholic cirrhosis

English Journal

• Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.

• Erdöl Ş, Sağlam H1.
• Journal of clinical research in pediatric endocrinology.J Clin Res Pediatr Endocrinol.2016 Sep 1;8(3):330-3. doi: 10.4274/jcrpe.2288. Epub 2016 Apr 18.
• OBJECTIVE: Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine
• PMID 27086477

• Diagnosis and treatment of high density lipoprotein deficiency.

• Schaefer EJ1, Anthanont P2, Diffenderfer MR3, Polisecki E4, Asztalos BF3.
• Progress in cardiovascular diseases.Prog Cardiovasc Dis.2016 Aug 23. pii: S0033-0620(16)30087-1. doi: 10.1016/j.pcad.2016.08.006. [Epub ahead of print]
• Low serum high density lipoprotein cholesterol level (HDL-C)<40mg/dL in men and <50mg/dL in women are a significant independent risk factor for cardiovascular disease (CVD), and are often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with m
• PMID 27565770

• Cellular cholesterol accumulation modulates high fat high sucrose (HFHS) diet-induced ER stress and hepatic inflammasome activation in the development of non-alcoholic steatohepatitis.

• Bashiri A1, Nesan D2, Tavallaee G2, Sue-Chue-Lam I2, Chien K2, Maguire GF2, Naples M3, Zhang J3, Magomedova L4, Adeli K3, Cummins CL4, Ng DS5.
• Biochimica et biophysica acta.Biochim Biophys Acta.2016 Jul;1861(7):594-605. doi: 10.1016/j.bbalip.2016.04.005. Epub 2016 Apr 14.
• Non-alcoholic steatohepatitis (NASH), is the form of non-alcoholic fatty liver disease posing risk to progress into serious long term complications. Human and pre-clinical models implicate cellular cholesterol dysregulation playing important role in its development. Mouse model studies suggest syner
• PMID 27090939

Japanese Journal

• Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency

• MIARKA Przemyslaw,IDZIOR-WALUS Barbara,KUZNIEWSKI Marek,WALUS-MIARKA Malgorzata,KLUPA Tomasz,SULOWICZ Wladyslaw
• Clinical and experimental nephrology 15(3), 424-429, 2011-06-01
• NAID 10029005945

• 眼科図譜(358)LCAT(lecithin-cholesterol acyltransferase)欠損症に伴った角膜混濁の1例

• 石崎 こずえ,竹澤 美貴子,牧野 伸二 [他]
• 臨床眼科 65(1), 12-15, 2011-01
• NAID 40018700067

• Molecular Analysis of a Novel LCAT Mutation (Gly179 → Arg) Found in a Patient with Complete LCAT Deficiency

• Wang Xiao Li,Osuga Jun-ichi,Tazoe Fumiko,Okada Kenta,Nagashima Shuichi,Takahashi Manabu,Ohshiro Taichi,Bayasgalan Tumenbayar,Yagyu Hiroaki,Okada Koji,Ishibashi Shun
• Journal of Atherosclerosis and Thrombosis 18(8), 713-719, 2011
• … Lecithin-cholesterol acyltransferase (LCAT) is an important enzyme involved in the esterification of cholesterol. … Here, we report a novel point mutation in the LCAT gene of a 63-year-old female with characteristics of classic familial LCAT deficiency. …
• NAID 130004444539

Related Links

• Lecithin-Cholesterol Acyltransferase Deficiency

The 2 familial forms of lecithin-cholesterol acyltransferase (LCAT) deficiency are termed familial LCAT deficiency (complete LCAT deficiency) and fish eye disease (partial LCAT deficiency). LCAT is an enzyme bound to high-density lipoproteins (HDLs) and low-density lipoproteins (LDLs) in the plasma.

• OMIM Entry - # 245900 - LECITHIN:CHOLESTEROL ...

Clinical Synopsis TEXT A number sign (#) is used with this entry because Norum disease is caused by mutation in the lecithin:cholesterol acyltransferase gene (LCAT; 606967). The same gene is mutant in fish-eye disease (136120).

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★リンクテーブル★

リンク元	「LCAT欠損症」
関連記事	「deficiency」「acyltransferase」「cholesterol」

「LCAT欠損症」

　　[★]

英

LCAT deficiency, lecithin-cholesterol acyltransferase deficiency

同

レシチン・コレステロールアシルトランスフェラーゼ欠損症、レシチン・コレステロールアシルトランスフェラーゼ欠乏症？？

関

家族性LCAT欠損症、レシチンアシルトランスフェラーゼ欠損症

[show details]

LCAT欠損症 : 約 17,800 件
LCAT欠乏症 : 8 件

レシチン・コレステロールアシルトランスフェラーゼ欠損症 : 35 件
レシチン・コレステロールアシルトランスフェラーゼ欠乏症 : 6 件

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「acyltransferase」

　　[★]

アシルトランスフェラーゼ、アシル転移酵素、アシル基転移酵素

関

transacylase

「cholesterol」

　　[★] コレステロール