Catalog

Familial lecithin-cholesterol acyltransferase deficiency

No MMS code

Link to WHO Definition

Familial lecithin-cholesterol acyltransferase deficiency – http://id.who.int/icd/entity/1147277534

Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterised clinically by corneal opacities, haemolytic anaemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.