Norum disease

Definition

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.

Also known as complete LCAT deficiency, FLD, lecithin acyltransferase deficiency, lecithin:cholesterol acyltransferase deficiency, Norum disease — per MONDO

Also identified as

• DOID 1391 per MONDO
• NCIT C84813 per MONDO
• OMIM 245900 per MONDO
• Orphanet 79293 per MONDO
• SCTID 238091006 per MONDO
• UMLS C0023195 per MONDO