Other Names for this Disease
- Lecithin cholesterol acyltransferase deficiency
- LCAT 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.
- Medscape Reference provides information on this topic. 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- !LINK! 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.