Norum disease

Common Name(s)

Norum disease

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).
 

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Mendelian Reverse Cholesterol Transport Study
 

Status: Recruiting

Condition Summary: Cholesterol, HDL; Lipid Metabolism, Inborn Errors; Tangier Disease; LCAT Deficiency; CETP Deficiency

 

Last Updated: 21 Feb 2013

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