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Genetic and Rare Diseases Information Center (GARD)

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Norum disease


Other Names for this Disease

  • LCAT deficiency
  • Lecithin cholesterol acyltransferase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2] 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).[2]
Last updated: 9/10/2009

References

  1. 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.
  2. LCAT. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene=lcat. Accessed 9/7/2009.
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Basic Information

  • 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) is an 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. 
  • 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.
Other Names for this Disease
  • LCAT deficiency
  • Lecithin cholesterol acyltransferase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.