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lecithin-cholesterol acyl transferase deficiency

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lecithin-cholesterol acyl transferase deficiency
LCAT deficiency
An AR condition of adult onset characterized by corneal opacification, proteinuria, renal insufficiency, HTN, premature ASHD, hemolytic anemia, obstructive jaundice, liver failure Lab ↑ Ratio of free cholesterol to cholesteryl esters, ↑ phospholipids, TGs, lipoprotein X. See Fish eye disease.


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