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Lecithin Acyltransferase Deficiency (Lecithin:Cholesterol Acyltransferase Deficiency)

An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
Also Known As:
Lecithin:Cholesterol Acyltransferase Deficiency; Fish-Eye Disease; Deficiency, Lecithin Acyltransferase; Dyslipoproteinemic Corneal Dystrophy; LCAT Deficiency; alpha-LCAT Deficiency; alpha-Lecithin-Cholesterol Acyltransferase Deficiency; Corneal Dystrophy, Dyslipoproteinemic; Fish Eye Disease; alpha LCAT Deficiency; alpha Lecithin Cholesterol Acyltransferase Deficiency
Networked: 310 relevant articles (10 outcomes, 31 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Lecithin Acyltransferase Deficiency (Lecithin:Cholesterol Acyltransferase Deficiency)
2. Corneal Opacity
3. Tangier Disease
4. Arteriosclerosis
5. Atherosclerosis

Experts

1. Calabresi, Laura: 8 articles (11/2013 - 06/2004)
2. Ng, Dominic S: 7 articles (12/2015 - 04/2002)
3. Franceschini, Guido: 7 articles (11/2013 - 06/2004)
4. Bujo, Hideaki: 5 articles (08/2014 - 02/2011)
5. Connelly, Philip W: 5 articles (06/2012 - 04/2002)
6. Kuroda, Masayuki: 4 articles (08/2014 - 02/2011)
7. Remaley, Alan T: 4 articles (01/2013 - 06/2006)
8. Boscutti, Giuliano: 4 articles (05/2012 - 09/2005)
9. Saito, Yasushi: 3 articles (08/2014 - 02/2011)
10. Aoyagi, Yasuyuki: 3 articles (08/2014 - 02/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lecithin Acyltransferase Deficiency:
1. Apolipoprotein A-I (Apolipoprotein A1)IBA
2. Phosphatidylcholine-Sterol O-Acyltransferase (Lecithin Cholesterol Acyltransferase)IBA
3. Lipoproteins (Lipoprotein)IBA
4. CholesterolIBA
5. HDL CholesterolIBA
6. HDL LipoproteinsIBA
7. Apolipoproteins E (ApoE)IBA
8. Triglycerides (Triacylglycerol)IBA
9. Sterol O-AcyltransferaseIBA
10. very low density lipoprotein triglycerideIBA

Therapies and Procedures

1. Fat-Restricted Diet (Diet, Fat Restricted)
2. Hormone Replacement Therapy (Therapy, Hormone Replacement)
3. Kidney Transplantation
4. Total Parenteral Nutrition
5. Enzyme Replacement Therapy