A review on lecithin:cholesterol acyltransferase deficiency

• Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme
• LCAT plays a key role in the metabolism of HDL-C.
• Genetic disorders of LCAT are associated with lipoprotein abnormalities
• Recombinant LCAT is being developed for treatment of patients with LCAT deficiency.

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.