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Norum disease
rareA 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.
- Identifiers
- MONDO:0009515 OMIM:245900Orphanet:79293
- Causal genes
- LCAT
- Also known as
- complete LCAT deficiency · FLD · lecithin acyltransferase deficiency · lecithin:cholesterol acyltransferase deficiency
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