Lecithin cholesterol acyltransferase deficiency

Lipid Disorders Main Page
Overview
Causes
Classification Abetalipoproteinemia Hypobetalipoproteinemia Familial hypoalphalipoproteinemia LCAT Deficiency Chylomicron retention disease Tangier disease Familial combined hypolipidemia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: LCAT deficiency, dyslipoproteinemic corneal dystrophy, fish eye disease, Norum disease, partial LCAT deficiency

Overview

Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins. The disease has two forms: familial LCAT deficiency in which there is complete LCAT deficiency and fish eye disease inwhich there is a partial deficiency. Both are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22. A deficiency of LCAT causes accumulation of unesterified cholesterol in certain body tissues. Symptoms of the familial form include diffuse corneal opacities, target cell hemolytic anemia and proteinuria with renal failure. Fish eye disease only causes progressive corneal opacification.