Familial LCAT deficiency

Orpha code: 79293OMIM code: 245900

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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