Lecithin cholesterol acyltransferase deficiency
| Lecithin cholesterol acyltransferase deficiency | |
|---|---|
| Other names | LCAT deficiency |
| Specialty | Medical genetics |
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism.[1] The disease has two forms:[2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency.[3]
Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins.
- ^ 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. doi:10.1016/S0022-2275(20)37433-2. 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:10.1161/01.ATV.0000175751.30616.13. hdl:11380/636978. ISSN 1079-5642. PMID 15994445.
- ^ Koster, H; Savoldelli, M; Dumon, M. F.; Dubourg, L; Clerc, M; Pouliquen, Y (1992). "A fish-eye disease-like familial condition with massive corneal clouding and dyslipoproteinemia. Report of clinical, histologic, electron microscopic, and biochemical features". Cornea. 11 (5): 452–64. doi:10.1097/00003226-199209000-00016. PMID 1424675. S2CID 27089164.