Lecithin Acyltransferase Deficiency

Known as: Norum Disease, Deficiency, LCAT, LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY 
An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low… (More)
National Institutes of Health

Related topics

Related topics

13 relations
Anemia, HemolyticAutosomal recessive inheritanceIn BloodKidney Failure
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Broader (1)

Enzyme Deficiency

Narrower (1)

Fish-Eye Disease

Papers overview

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Highly Cited
2009
Highly Cited
2009
Modification of high density lipoprotein by myeloperoxidase generates a pro-inflammatory particle.
High density lipoprotein (HDL) is the major atheroprotective particle in plasma. Recent studies demonstrate that myeloperoxidase… (More)
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Highly Cited
2004
Highly Cited
2004
Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver.
Lecithin-retinol acyltransferase (LRAT), an enzyme present mainly in the retinal pigmented epithelial cells and liver, converts… (More)
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Highly Cited
2004
Highly Cited
2004
Atherogenic index of plasma [log(triglycerides/HDL-cholesterol)]: theoretical and practical implications.
In individuals with type 2 diabetes, metabolic syndrome, and the combined dyslipidemia, cardiovascular risk is increased by a… (More)
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Highly Cited
2001
Highly Cited
2001
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of… (More)
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2001
2001
Acquired lecithin-cholesterol acyltransferase deficiency in nephrotic syndrome.
Lecithin-cholesterol acetyltransferase (LCAT) is involved in the synthesis of plasma cholesteryl esters and is pivotal in the… (More)
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2001
2001
Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterol acyltransferase-deficient mice.
To evaluate the biochemical and molecular mechanisms leading to glomerulosclerosis and the variable development of… (More)
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Highly Cited
1998
Highly Cited
1998
Characterization of two human genes encoding acyl coenzyme A:cholesterol acyltransferase-related enzymes.
The enzyme acyl coenzyme A:cholesterol acyltransferase 1 (ACAT1) mediates sterol esterification, a crucial component of… (More)
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Highly Cited
1997
Highly Cited
1997
High plasma HDL concentrations associated with enhanced atherosclerosis in transgenic mice overexpressing lecithinchoesteryl acyltransferase
A subset of patients with high plasma HDL concentration have enhanced rather than reduced atherosclerosis. We have developed a… (More)
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1977
1977
Renal failure in familial lecithin-cholesterol acyltransferase deficiency.
Familial lecithin-cholesterol acyltransferase deficiency is a hereditary disorder of lipid metabolism. Lipid material is… (More)
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Highly Cited
1969
Highly Cited
1969
Familial plasma lecithin: cholesterol acyltransferase deficiency.
A WOMAN WITH FAMILIAL PLASMA LECITHIN: cholesterol acyltransferase (L.C.A.T.) deficiency showed, like the other reported cases… (More)
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