Cholesteryl ester storage disease
Other Names for this Disease
- Cholesterol ester hydrolase deficiency
- Cholesterol ester storage disease
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cirrhosis and liver failure occurring in some patients. Individuals with this condition also exhibit the accumulation of fatty deposits on the artery walls (atherosclerosis) which can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. Individuals with this condition may benefit from a low cholesterol diet. Enzyme replacement therapy is currently being studied.Cholesteryl ester storage disease is an inherited condition caused by the accumulation of harmful amounts of fats and cholesterol in cells and tissues throughout the body. The liver is most severely affected with
Last updated: 7/14/2015
- Cholesteryl ester storage disease. Genetics Home Reference (GHR). October 2007; http://ghr.nlm.nih.gov/condition/cholesteryl-ester-storage-disease. Accessed 7/14/2015.
- NINDS Acid Lipase Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). April 16, 2014; http://www.ninds.nih.gov/disorders/acid_lipase/acid_lipase.htm.
- Kruer MC, Steiner RD. Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. October 18, 2013; http://emedicine.medscape.com/article/1182830-overview#a7.
- Genetics Home Reference (GHR) contains information on Cholesteryl ester storage disease. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- 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 Cholesteryl ester storage disease. Click on the link to view a sample search on this topic.