[Familial LCAT deficiency].
Familial plasma lecithine: cholesterol acyltransferase (LCAT) deficiency is a disease that is inherited as an autosomal recessing trait. The main clinical abnormalities are corneal opacities, anemia and frequently, though not invariably, proteinuria. These abnormalities result from a failure of LCAT to esterify cholesterol in plasma. Renal failure can be a life-threatening complication. In plasma, all lipoprotein classes show abnormalities including lipid composition, shape, distribution and concentration. Fish eye disease, which is characterized by corneal opacities and plasma lipoprotein abnormalities, is also a result from deficiency of LCAT activity. As LCAT gene has been cloned, molecular defects of both familial LCAT deficiency and fish eye disease have been reported recently.
First Department of Internal Medicine, Teikyo University School of Medicine.
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Kinoshita
D000740:Anemia / Q000209:etiology; D003318:Corneal Opacity / Q000209:etiology; D005808:Genes, Recessive; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000150:complications / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D009154:Mutation; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics
D008074:Lipoproteins; D007862:Phosphatidylcholine-Sterol O-Acyltransferase