A review on lecithin:cholesterol acyltransferase deficiency

Clin Biochem. 2015 May;48(7-8):472-5. doi: 10.1016/j.clinbiochem.2014.08.014. Epub 2014 Aug 27.


Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). Genetic disorders of LCAT are associated with lipoprotein abnormalities including low levels of HDL-C and presence of lipoprotein X, and clinical features mainly corneal opacities, changes in erythrocyte morphology and renal failure. Recombinant LCAT is being developed for the treatment of patients with LCAT deficiency.

Keywords: Cholesterol; FED; FLD; HDL; LCAT deficiency.

Publication types

  • Review

MeSH terms

  • Atherosclerosis / enzymology
  • Atherosclerosis / genetics
  • Atherosclerosis / metabolism
  • Cholesterol, HDL / metabolism*
  • Humans
  • Lecithin Cholesterol Acyltransferase Deficiency / diagnosis*
  • Lecithin Cholesterol Acyltransferase Deficiency / enzymology
  • Lecithin Cholesterol Acyltransferase Deficiency / metabolism
  • Lipoprotein-X / metabolism
  • Phosphatidylcholine-Sterol O-Acyltransferase / genetics
  • Phosphatidylcholine-Sterol O-Acyltransferase / metabolism*


  • Cholesterol, HDL
  • Lipoprotein-X
  • Phosphatidylcholine-Sterol O-Acyltransferase