Familial LCAT deficiency
ORPHA:79293· ICD-10 E78.6
Definition
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages