lecithin–cholesterol acyltransferase deficiency
- lecithin–cholesterol acyltransferase deficiency
- le·ci·thin–cho·les·ter·ol ac·yl·trans·fer·ase de·fi·cien·cy (lesґĭ-thin kə-lesґtər-ol a″səl-transґfər-ās) an autosomal recessive disorder due to failure of LCAT to esterify plasma cholesterol as the result of mutation in the LCAT gene (locus: 16q22.1); cholesterol and phosphatidylcholine accumulate in the plasma and tissues, causing corneal opacities, anemia, and often proteinuria. All classes of lipoproteins show abnormalities. See also fish eye disease under disease.
Medical dictionary.
2011.
Look at other dictionaries:
LCAT deficiency — lecithin–cholesterol acyltransferase deficiency … Medical dictionary
phosphatidylcholine–sterol O-acyltransferase — phos·pha·ti·dyl·cho·line–ster·ol O ac·yl·trans·fer·ase (fos″fə ti″dəl koґlēn sterґol a″səl transґfər ās) [EC 2.3.1.43] an enzyme of the transferase class, secreted by the liver, that catalyzes the … Medical dictionary
Norum-Gjone disease — lecithin–cholesterol acyltransferase deficiency … Medical dictionary
fish eye disease — a less severe form of lecithin–cholesterol acyltransferase deficiency due to a partial defect in the enzyme activity as a result of mutation in the LCAT gene (locus: 16q22.1); corneal opacities give the eye the appearance of the eye of a boiled … Medical dictionary
