Contributor: Gordon K. Klintworth
Norum disease (lecithin-cholesterol acyltransferase deficiency, LCAT deficiency, LCAT disease, OMIM #245900) is an autosomal recessive inherited disorder of lipoprotein results from a deficiency of alpha lecithin-cholesterol acyltransferase. This condition was first documented by Norum and Gjone in 1967 and it results from a mutation in the LCAT gene. Free cholesterol accumulates. The phenotype various with the location of the mutation. Norum disease and fish-eye disease result from different mutations in the LCAT gene. The systemic manifestations include renal failure, but there is no increased risk of atherosclerosis. The ophthalmological manifestations include a dense arcus lipoides and a diffuse opacification of the central corneal stroma and may seriously affect vision.