| Lecithin cholesterol acyltransferase deficiency | |
|---|---|
| Classification and external resources | |
| ICD-10 | E78.6 |
| ICD-9 | 272.5 |
| OMIM | 245900 136120 |
| DiseasesDB | 7343 |
| eMedicine | med/1270 |
| MeSH | D007863 |
Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is disorder of lipoprotein metabolism.[1]
Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.
Types
The disease has two forms: [2]
- familial LCAT deficiency in which there is complete LCAT deficiency.
- 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.
Presentation
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.
References
- ^ Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J (February 1997). "The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes". J. Lipid Res. 38 (2): 191–205. PMID 9162740. http://www.jlr.org/cgi/pmidlookup?view=long&pmid=9162740.
- ^ Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G, Busnach G, Frasc� G, Gesualdo L, Gigante M, Lupattelli G, Montali A, Pizzolitto S, Rabbone I, Rolleri M, Ruotolo G, Sampietro T, Sessa A, Vaudo G, Cantafora A, Veglia F, Calandra S, Bertolini S, Franceschini G (Sep 2005). "The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.". Arteriosclerosis, thrombosis, and vascular biology 25 (9): 1972–1978. doi:. ISSN 1079-5642. PMID 15994445. http://atvb.ahajournals.org/cgi/pmidlookup?view=long&pmid=15994445.
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