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

Etiology: - deficiency in lecithin-cholesterol acyltransferase (LCAT) Pathology: 1) corneal opacities 2) premature atherosclerosis 3) 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: 1) anemia 2) hyperlipidemia

Related

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

General

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

References

Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210