レシチンアシルトランスフェラーゼ欠損症
- 関
- LCAT deficiency
WordNet
- 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
PrepTutorEJDIC
- 〈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
- レシチン(神経細胞や卵黄などに含まれるリン脂質)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/01/22 14:37:09」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2013) |
Lecithin cholesterol acyltransferase deficiency |
Classification and external resources |
ICD-10 |
E78.6 |
ICD-9 |
272.5 |
OMIM |
245900 136120 |
DiseasesDB |
7343 |
eMedicine |
med/1270 |
MeSH |
D007863 |
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.[1]
Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.
Contents
- 1 Types
- 2 Presentation
- 3 Mortality and Morbidity
- 4 Signs and symptoms
- 5 Diagnosis
- 6 References
Types[edit]
The disease has two forms:[2]
- 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[edit]
A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. 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[edit]
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[edit]
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[edit]
Battery of tests are required such as CBC for anemia, kidney functions, urine for proteinurea, 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[edit]
- ^ Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (February 1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes". J. Lipid Res. 38 (2): 191–205. PMID 9162740.
- ^ Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasc� G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G (Sep 2005). "The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.". Arteriosclerosis, thrombosis, and vascular biology 25 (9): 1972–1978. doi:10.1161/01.ATV.0000175751.30616.13. ISSN 1079-5642. PMID 15994445.
Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
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Hyperlipidemia |
- Hypercholesterolemia/Hypertriglyceridemia
- Lipoprotein lipase deficiency/Type Ia
- Familial apoprotein CII deficiency/Type Ib
- Familial hypercholesterolemia/Type IIa
- Combined hyperlipidemia/Type IIb
- Familial dysbetalipoproteinemia/Type III
- Familial hypertriglyceridemia/Type IV
- Xanthoma/Xanthomatosis
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Hypolipoproteinemia |
Hypoalphalipoproteinemia/HDL
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- Lecithin cholesterol acyltransferase deficiency
- Tangier disease
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Hypobetalipoproteinemia/LDL
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- Abetalipoproteinemia
- Apolipoprotein B deficiency
- Chylomicron retention disease
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Lipodystrophy |
- Barraquer–Simons syndrome
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Other |
- Lipomatosis
- Adiposis dolorosa
- Lipoid proteinosis
- APOA1 familial renal amyloidosis
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mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
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k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
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m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
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UpToDate Contents
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English Journal
- Severe high-density lipoprotein deficiency associated with autoantibodies against lecithin:cholesterol acyltransferase in non-hodgkin lymphoma.
- Simonelli S, Gianazza E, Mombelli G, Bondioli A, Ferraro G, Penco S, Sirtori CR, Franceschini G, Calabresi L.SourceCenter E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, via Balzaretti 9, 20133 Milano, Italy. laura.calabresi@unimi.it.
- Archives of internal medicine.Arch Intern Med.2012 Jan 23;172(2):179-81.
- An antibody against the lecithin:cholesterol acyltransferase (LCAT) enzyme, which negates cholesterol esterification in plasma, causing severe high-density lipoprotein deficiency (HD), was identified in a woman with a large-cell non-Hodgkin lymphoma. Successful treatment of the lymphoma resulted in
- PMID 22271127
- The role of lecithin:cholesterol acyltransferase in the modulation of cardiometabolic risks - A clinical update and emerging insights from animal models.
- Ng DS.AbstractLecithin cholesterol acyltransferase (LCAT) is the key enzyme in mediating the esterification of cholesterol on circulating lipoproteins. It has long been suggested that LCAT plays a crucial role in reverse cholesterol transport, a process depicting the removal of cellular cholesterol through efflux to high density lipoproteins (HDL) and its delivery to the liver for eventual excretion from the body. Although loss-of-function LCAT mutations invariably result in profound HDL deficiency, the role of LCAT in atherogenesis continues to be clouded with controversy. Increasing number of large scale, population-based studies failed to detect an elevated cardiac risk with reduced blood levels of LCAT, suggesting that reduced LCAT activity may not be a risk factor nor a therapeutic target. More recent studies in human LCAT gene mutation carriers tend to suggest that atherogenicity in LCAT deficiency may be dependent on the nature of the mutations, providing plausible explanations for the otherwise contradictory findings. Genetic models of LCAT excess or deficiency yielded mixed findings. Despite it known profound effects on HDL and triglyceride metabolism, the role of LCAT in metabolic disorders, including obesity and diabetes, has not received much attention. Recent studies in LCAT deficient mouse models suggest that absence of LCAT may protect against insulin resistance, diabetes and obesity. Coordinated modulation of a number of anti-obesity and insulin sensitizing pathways has been implicated. Further studies to explore the role of LCAT in the modulation of cardiometabolic disorders and the underlying mechanisms are warranted.
- Biochimica et biophysica acta.Biochim Biophys Acta.2012 Jan 12. [Epub ahead of print]
- Lecithin cholesterol acyltransferase (LCAT) is the key enzyme in mediating the esterification of cholesterol on circulating lipoproteins. It has long been suggested that LCAT plays a crucial role in reverse cholesterol transport, a process depicting the removal of cellular cholesterol through efflux
- PMID 22326749
- Chameleon-like appearance of immunotactoid keratopathy.
- Lisch W, Saikia P, Pitz S, Pleyer U, Lisch C, Jaeger M, Rohrbach JM.Sourceprof.dr.lisch@augenklinik-hanau.de
- Cornea.Cornea.2012 Jan;31(1):55-8.
- PURPOSE: To demonstrate 5 different patterns of immunotactoid keratopathy (ITK) in monoclonal gammopathy of undetermined significance (MGUS) that can mimic hereditary and degenerative disorders. First follow-up of 1 female patient was performed.METHODS: Colored slit-lamp photodocumentation of 6 MGUS
- PMID 21941171
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
- 原発性低脂血症の病型分類と病因・臨床徴候・管理法 原発性低LDLコレステロール血症 家族性LCAT欠損症 (脂質代謝異常--高脂血症・低脂血症) -- (脂質代謝異常の臨床 低脂血症)
Related Links
- Lecithin-Cholesterol Acyltransferase Deficiency. The two familial forms of lecithin-cholesterol acyltransferase (LCAT) deficiency are termed familial LCAT deficiency (complete LCAT deficiency) and fish eye disease (partial ... ...
- Information about Lecithin acyltransferase deficiency in Free online English dictionary. What is Lecithin acyltransferase deficiency? Meaning of Lecithin acyltransferase deficiency medical term. What does Lecithin acyltransferase ...
Related Pictures
★リンクテーブル★
[★]
- 英
- lecithin acyltransferase deficiency
- 関
- 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
[★]
- 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
[★]
レシチンアシル基転移酵素、レシチンアシルトランスフェラーゼ
- 関
- lecithin cholesterol acyltransferase、phosphatidylcholine-sterol O-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