Сімейний дефіцит LCAT
ORPHA:79293· ICD-10 E78.6· Familial LCAT deficiency
Визначення(English summary)
Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive, Not applicable
- Вік початку
- All ages