Biomaterial Database

[Lecithin: cholesterol acyltransferase (LCAT)--the genetic analysis of familial LCAT deficiency and fish eye disease]. 1995

H Bujo, and Y Saito

2nd Dept. of Internal Medicine, Chiba Univ. School of Medicine.

Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyze the esterification of free cholesterol in plasma proteins. The functional abnormalities of LCAT are known to cause two diseases characterized by severe corneal opacity; familial LCAT deficiency that is accompanied with anemia and frequently, though not invariably, renal failure, and fish eye disease (FED) without any other severe symptoms. Notably, it has been shown that the clinical symptoms and biochemical features are highly variable in each patient with the diseases. Recent genetic studies on the cases of LCAT deficiency or FED revealed both diseases to be caused by respective mutations of the LCAT gene. These findings suggest the abnormal or defective LCAT by each gene mutation underlies the heterogeneity in the biochemical and, possibly, clinical characteristics observed in LCAT deficiency and FED.

UI	MeSH Term	Description	Entries
D007862	Phosphatidylcholine-Sterol O-Acyltransferase	An enzyme secreted from the liver into the plasma of many mammalian species. It catalyzes the esterification of the hydroxyl group of lipoprotein cholesterol by the transfer of a fatty acid from the C-2 position of lecithin. In familial lecithin:cholesterol acyltransferase deficiency disease, the absence of the enzyme results in an excess of unesterified cholesterol in plasma.	Lecithin Cholesterol Acyltransferase,Cholesterol Ester Lysolecithin Acyltransferase,Lecithin Acyltransferase,Phosophatidylcholine-Sterol Acyltransferase,Acyltransferase, Lecithin,Acyltransferase, Lecithin Cholesterol,Acyltransferase, Phosophatidylcholine-Sterol,Cholesterol Acyltransferase, Lecithin,O-Acyltransferase, Phosphatidylcholine-Sterol,Phosophatidylcholine Sterol Acyltransferase,Phosphatidylcholine Sterol O Acyltransferase
D007863	Lecithin Cholesterol Acyltransferase Deficiency	An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.	Dyslipoproteinemic Corneal Dystrophy,Fish-Eye Disease,LCAT Deficiency,LCATA Deficiency,Lecithin:Cholesterol Acyltransferase Deficiency,Norum Disease,alpha-LCAT Deficiency,alpha-Lecithin-Cholesterol Acyltransferase Deficiency,alpha-Lecithin:Cholesterol Acyltransferase Deficiency,Acyltransferase Deficiency, Lecithin:Cholesterol,Corneal Dystrophy, Dyslipoproteinemic,Deficiency, LCAT,Deficiency, alpha-LCAT,Fish Eye Disease,LCATA Deficiencies,alpha LCAT Deficiency
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D003318	Corneal Opacity	Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.	Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D018740	Genetic Heterogeneity	The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)	Heterogeneity, Genetic,Genetic Heterogeneities,Heterogeneities, Genetic