familial lecithin-cholesterol acyltransferase deficiency

WordNet

1. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
2. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
3. 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
4. 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. 家族の,家族特有の / 違伝的な,血統にあらわれる
3. レシチン(神経細胞や卵黄などに含まれるリン脂質)
4. 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コレステロール：異常値の臨床的側面 hdl cholesterol clinical aspects of abnormal values
• 2. 棘状細胞（棘状赤血球および有棘赤血球）と標的細胞の原因 causes of spiculated cells echinocytes and acanthocytes and target cells
• 3. 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
• 4. 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
• 5. 家族性急性白血病および骨髄異形成症候群 familial acute leukemia and myelodysplastic syndromes

English Journal

• Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.

• Gopalakrishnan N1, Arul R2, Dhanapriya J3, Kumar TD3, Sakthirajan R3, Balasubramaniyan T4.
• The Journal of the Association of Physicians of India.J Assoc Physicians India.2016 Oct;64(10):90-91.
• Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is charact
• PMID 27766813

• 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 Sep - Oct;59(2):97-106. doi: 10.1016/j.pcad.2016.08.006. Epub 2016 Aug 24.
• Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with
• PMID 27565770

Japanese Journal

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

• Clinical and experimental nephrology 15(3), 424-429, 2011-06-01
• NAID 10029005945

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

• Journal of Atherosclerosis and Thrombosis 18(8), 713-719, 2011
• NAID 130004444539

• Point mutation (C to T) of the LCAT gene resulting in A140C substitution

• Journal of Atherosclerosis and Thrombosis 17(12), 1297-1301, 2010
• NAID 130004444399

Related Links

• Lecithin cholesterol acyltransferase deficiency - Wikipedia, the free ...

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism. Lecithin ... Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure.

• Lecithin-Cholesterol Acyltransferase Deficiency

13 Dec 2011 ... 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 ...

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★リンクテーブル★

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

「家族性LCAT欠損症」

　　[★]

英

familial LCAT deficiency

同

家族性レシチン・コレステロールアシルトランスフェラーゼ欠損症 familial lecithin-cholesterol acyltransferase deficiency

「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

　

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred

　 　 　

「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