Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency.Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.
Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and kidney failure. Less common ...
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* Tota la informació es basa en investigacions científiques publicades