[Molecular defects in familial LCAT deficiency].

Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyzes the esterification of free cholesterol in plasma lipoproteins. Familial LCAT deficiency, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by corneal opacity, anemia and frequently, though not invariably, renal failure. Recently, LCAT cDNA and gene have been cloned. Studies on DNA samples from unrelated patients with familial LCAT deficiency and fish eye disease, which is characterized by severe corneal opacity alone, revealed both diseases to be caused by respective mutations of the LCAT gene. It is suspected that defect or functional abnormality of LCAT, caused by these genetic defects, underlie the various clinical and biochemical characteristics observed in LCAT deficiency or fish eye disease.