Familial LCAT deficiency

Orpha code: 79293OMIM code: 245900

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
Complete LCAT deficiency
Całkowity Niedobór LCAT
Choroba Noruma
FLD
FLD
Norum disease
ORPHA code
79293
OMIM code
245900
ICD10 code
E78.6
ICD11 code
-

No additional description.

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