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Other Names for this Disease
- LCAT deficiency
- Lecithin cholesterol acyltransferase deficiency
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Norum disease is an autosomal recessive disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal (kidney) failure. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity).
Last updated: 9/10/2009
- Lecithin:Cholesterol Acyltransferase Deficiency. Online Mendelian Inheritance of Disease (OMIM). 2002; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=245900. Accessed 9/7/2009.
- LCAT. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=lcat. Accessed 9/7/2009.
- Genetics Home Reference contains information on Norum disease. This website is maintained by the National Library of Medicine.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Norum disease. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Norum disease. Click on the link to view a sample search on this topic.