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14-September-2008 10:43:23 - Lecithin cholesterol acyltransferase deficiency 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. Lecithin cholesterol acyltransferase catalyzes the formation of cholesterol esters in lipoproteins. Types The disease has two forms: familial LCAT deficiency in which there is complete LCAT deficiency, and 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 J, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J 1997. The molecular pathology of lecithin: cholesterol acyltransferase LCAT deficiency syndromes. J Lipid Res 38 2: 191-205. PMID 9162740. v d e Lipid metabolism disorders / Inborn error of lipid metabolism - dyslipidemia E78 and E71.3, 272 Hyperlipidemia Hypercholesterolemia/Hypertriglyceridemia Familial hypercholesterolemia, Combined hyperlipidemia - Xanthoma Hypolipoproteinemia Hypoalphalipoproteinemia/HDL Lecithin cholesterol acyltransferase deficiency, Tangier disease Hypobetalipoproteinemia/LDL Abetalipoproteinemia, Apolipoprotein B deficiency Lipodystrophy Barraquer-Simons syndrome Fatty acid metabolism deficiency transport: Carnitine Primary, I, II, -acylcarnitine - Adrenoleukodystrophy beta oxidation: Acyl CoA dehydrogenase Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain - Mitochondrial trifunctional protein deficiency to acetyl-CoA: Malonic aciduria Cholesterol synthesis Smith-Lemli-Opitz syndrome Other Sjögren-Larsson syndrome - Lipomatosis - Adiposis dolorosa - Lipoid proteinosis see also lipid metabolism enzymes, lipoprotein metabolism This disease article is a stub. Retrieved from http://en..org/wiki/Lecithin_cholesterol_acyltransferase_deficiency Categories: Metabolic disorders | Inborn errors of metabolism | Genetic disorders | Autosomal recessive disorders | Ophthalmology | Disease stubs Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Polski This page was last modified on 6 June 2008, at 16:13
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