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Lecithin cholesterol acyltransferase deficiency



Lecithin cholesterol acyltransferase deficiency
Classification & external resources
ICD-10 E78.6
OMIM 245900 136120
DiseasesDB 7343
eMedicine med/1270 

Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is 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 in which 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.

Additional recommended knowledge

References

    • Kuivenhoven J, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (1997). "The molecular pathology of lecithin: cholesterol acyltransferase (LCAT) deficiency syndromes". J Lipid Res 38 (2): 191-205. PMID 9162740.



     
    This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Lecithin_cholesterol_acyltransferase_deficiency". A list of authors is available in Wikipedia.
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