Lecithin cholesterol acyltransferase deficiency: Difference between revisions

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

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Revision as of 15:51, 9 November 2016

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aravind Kuchkuntla, M.B.B.S [2] Synonyms and keywords: LCAT deficiency, dyslipoproteinemic corneal dystrophy, fish eye disease, Norum disease, partial LCAT deficiency

Overview

Demographics, Natural History and Complications

Pathophysiology

Pathogenesis

Genetics=

Microscopy

Classification

Diagnosis

History and Symptoms

Laboratory Findings

Others

Treatment

Medical Therapy

Surgical Therapy

References

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 __NOTOC__
 {{Hypolipoproteinemia}}
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+{{CMG}} {{AE}} {{AKI}}
 {{SK}} 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 ester]]s 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 [[cornea]]l opacities, target cell [[hemolytic anemia]] and [[proteinuria]] with [[renal failure]]. Fish eye disease only causes progressive corneal opacification.<ref> cite journal | author = Kuivenhoven J, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J | title = The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. | journal = J Lipid Res | volume = 38 | issue = 2 | pages = 191-205 | year = 1997 | id = PMID 9162740</ref>
+==Demographics, Natural History and Complications==
+==Pathophysiology==
+===Pathogenesis===
+==Genetics===
+===Microscopy===
+==Classification==
+==Diagnosis==
+===History and Symptoms===
+===Laboratory Findings===
+===Others===
+==Treatment==
+===Medical Therapy===
+===Surgical Therapy===
 ==References==
 {{Reflist|2}}
-[[Category:Lipopedia]]
-[[Category:Inborn errors of metabolism]]
-[[Category:Ophthalmology]]
-{{Lipopedia}}
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