Lecithin cholesterol acyltransferase deficiency information
Disorder of lipoprotein metabolism
Medical condition
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. 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.
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association with the following conditions: Liver disease: Lecithin—cholesterolacyltransferase (LCAT) activity may be decreased in obstructive liver disease...
Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner. It can be associated with LDL receptor. Associated...
Akanuma Y (9 July 1985). "Defective enzyme causes lecithin-cholesterolacyltransferasedeficiency in a Japanese kindred". Biochimica et Biophysica Acta...
Dipalmitoylphosphatidylcholine (DPPC) is a phospholipid (and a lecithin) consisting of two C16 palmitic acid groups attached to a phosphatidylcholine head-group...
not been established, apo A-IV has been found to: activate lecithin-cholesterolacyltransferase and cholesterylester transfer protein in vitro; play a role...
particles or to the liver for excretion. It is a cofactor for lecithin–cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma...
arises by transfer of arachidonic acid from lecithin to the free amine of cephalin through an N-acyltransferase enzyme. Anandamide synthesis from NAPE occurs...
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