LCAT deficiency

LCAT欠損症

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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

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/03 17:02:15」(JST)

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Lecithin cholesterol acyltransferase deficiency
Classification and external resources
Specialty	endocrinology
ICD-10	E78.6
ICD-9-CM	272.5
OMIM	245900 136120
DiseasesDB	7343
eMedicine	med/1270
MeSH	D007863

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.

Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.

Types

The disease has two forms:

• familial LCAT deficiency in which there is complete LCAT deficiency.
• fish eye disease in which there is a partial deficiency.

Both are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.

Presentation

A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Cholesterol effluxes from cells as free cholesterol and is transported in HDL as esterified cholesterol. LCAT is the enzyme that esterifies the free cholesterol on HDL to cholesterol ester and allows the maturation of HDL. LCAT deficiency does not allow for HDL maturation resulting in its rapid catabolism of circulating apoA-1 and apoA-2. The remaining form of HDL resembles nascent HDL. Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure. Fish eye disease only causes progressive corneal opacification.

Mortality and morbidity

Renal failure is the major cause of morbidity and mortality in complete LCAT deficiency, while in partial deficiency (fish eye disease) major cause for morbidity is visual impairment due to corneal opacity. These patients have low HDL cholesterol but surprisingly premature atherosclerosis is not seen. However, there are some reported cases.

Signs and symptoms

In complete LCAT deficiency patients may present with Anemia, Corneal opacities, Hepatosplenomegaly, renal insufficiency while in partial deficiency (fish eye disease) corneal opacities is the main finding with hepatosplenomegaly.

Diagnosis

Battery of tests are required such as CBC for anemia, kidney functions, urine for proteinuria, Lipid profile, these patients have very low HDL cholesterol and high triglyceride level, High free cholesterol and low cholesterol esters levels. However definitive diagnosis rest with LCAT gene analysis for mutation and functional activity.

References

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. 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

• ApoA-IMilano phospholipid complex (ETC-216) infusion in human volunteers. Insights into the phenotypic characteristics of ApoA-IMilano carriers.

• Bisgaier CL1, Ackermann R2, Rea T3, Rodrigueza WV4, Hartman D5.
• Pharmacological research.Pharmacol Res.2016 May 4. pii: S1043-6618(15)30189-4. doi: 10.1016/j.phrs.2016.05.001. [Epub ahead of print]
• Epidemiological studies support an inverse correlation between HDL-C and cardiovascular disease. However, low HDL-C levels do not always segregate with premature disease. These include, LCAT deficiency and the apolipoproteinA-IMilano (AIM) variant. AIM has a cysteine for arginine at position 173 in
• PMID 27155060

• Severe hypercholesterolemia and liver disease in a 3-year old.

• Patel AM1, Brautbar A2, Desai NK3, Wilson DP4.
• Journal of clinical lipidology.J Clin Lipidol.2016 May-Jun;10(3):650-3. doi: 10.1016/j.jacl.2015.12.020. Epub 2015 Dec 23.
• Lipoprotein-X, which is composed of phospholipids and non-esterified cholesterol, is an abnormal lipoprotein with a density range similar to LDL-C. The two most common ways which lipoprotein-X accumulates is from reflux of bile salts into plasma or deficiency in lecithin cholesterol acyltransferase.
• PMID 27206954

• Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.

• Erdöl Ş, Sağlam H.
• Journal of clinical research in pediatric endocrinology.J Clin Res Pediatr Endocrinol.2016 Apr 18. doi: 10.4274/jcrpe.2288. [Epub ahead of print]
• OBJECTIVE: Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. Though there are limited data regarding endocrine dysfunctions related to IMDs in adults, no data exists in pediatric patients with IMDs. The aim of this study was to investigate endocrine d
• PMID 27086477

Japanese Journal

• 疾病治療用タンパク質分泌加工ヒト脂肪細胞の創薬開発と難病治療

• YAKUGAKU ZASSHI 136(5), 705-709, 2016
• NAID 130005148576

• Role of LCAT in Atherosclerosis

• Journal of Atherosclerosis and Thrombosis 23(2), 119-127, 2016
• NAID 130005122035

• Role of LCAT in Atherosclerosis

• Journal of Atherosclerosis and Thrombosis advpub(0), 2015
• NAID 130005110390

Related Links

• LCAT Deficiency | Hereditary Ocular Diseases

Complete LCAT deficiency (Norum) disease and partial deficiency (fish-eye disease) are autosomal recessive disorders secondary to mutations in the LCAT gene located on chromosome 16 (16q22.1). The mutation is located in ...

• Lcat Deficiency - City Insurance -

LCAT DEFICIENCY And barcelona casa mila case issue methods findings l. Varma anewcaseof acyltransferase. A human issue attempted first 1, formation p. Classical other early evaluate paradoxical pizzolitto b clinical 10.1111j ...

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★リンクテーブル★

リンク元	「レシチン・コレステロールアシルトランスフェラーゼ」「LCAT欠損症」「lecithin acyltransferase deficiency」
関連記事	「deficiency」「LCA」「LC」「LCAT」

「レシチン・コレステロールアシルトランスフェラーゼ」

　　[★]

英

lecithin-cholesterol acyltransferase, lecithin cholesterol acyltransferase, LCAT, lecithin:cholesterol acyltransferase

同

レシチンコレステロールアシルトランスフェラーゼ

[show details]

レシチンコレステロールアシル転移酵素 : 32 件
レシチンコレステロールアシル基転移酵素 : 25 件
レシチンコレステロールアシルトランスフェラーゼ : 約 20,100 件

レシチンコレステロールアシル転移酵素 LCAT : 21 件
レシチンコレステロールアシル基転移酵素 LCAT : 28 件
レシチンコレステロールアシルトランスフェラーゼ LCAT : 約 11,200 件

産生臓器

• 肝臓

局在

• 血液(血漿)

機能

• 血漿中にあってコレステロールにアシル基を転移しエステル化する酵素　→　コレステロールエステルの産生
• つまりHDLが有するコレステロールをエステル化する
• ホスファチジルコリンのC-2位の脂肪酸(特にオレイン酸を好む)をコレステロールの3'のヒドロキシ基転移する。基質はHDLであるが、これよりやや劣るがLDLも基質となりうる。 (WIL.1603)

コレステロールエステルの運命

HDLのコレステロールエステルはCETPによりIDL、LDLに受け渡され、肝臓に逆輸送される

臨床関連

• 肝実質細胞の障害

• LCAT活性の低下　→　コレステロールエステルの減少

• 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(LCAT deficiency)

「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

「lecithin acyltransferase deficiency」

　　[★]

レシチンアシルトランスフェラーゼ欠損症

関

LCAT 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

　

「LCA」

　　[★]

• CD45 leukocyte common antigen
• left coronary artery
• 肝細胞腺腫 liver cell adenoma
• レーバー先天黒内障 Leber congenital amaurosis
• リトコール酸 lithocholic acid

「LC」

　　[★]

• 腹腔鏡下胆嚢摘出術 laparoscopic cholecystectomy
• Langerhans cells Langerhans cell
• 肝硬変 liver cirrhosis
• 液体クロマトグラフィ liquid chromatography

「LCAT」

　　[★] レシチン・コレステロールアシルトランスフェラーゼ lecithin cholesterol acyltransferase