lecithin-cholesterol acyltransferase [LCAT] deficiency (Norum disease)

Etiology

• deficiency in lecithin-cholesterol acyltransferase (LCAT)

Pathology

• corneal opacities
• premature atherosclerosis
• a lack of LCAT activity would be expected to lead to accumulation of free cholesterol in the tissues

Genetics

• autosomal recessive
• associated with defects in LCAT

Laboratory

• anemia
• hyperlipidemia

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis
• hyperlipidemia

Additional terms

• fish eye disease
• lecithin-cholesterol acyltransferase (LCAT, phosphatidylcholine-sterol acyltransferase, phospholipid-cholesterol acyltransferase)

Database

• OMIM: https://mirror.omim.org/entry/245900