Cholesteryl Ester Storage Disease
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Cholesteryl Ester Storage Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- acid cholesteryl ester hydrolase deficiency, type 2
- cholesterol ester hydrolase deficiency
Cholesteryl ester storage disease (CESD) is a rare genetic disorder characterized by subtotal defect of an enzyme known as lysosomal acid lipase (LIPA or LAL). This enzyme is essential for hydrolysis of triglycerides and cholesteryl esters in lysosomes. CESD is caused by mutations in the lysosomal acid lipase (LIPA) gene. The disorder is inherited as an autosomal recessive trait. Deficiency of the LIPA enzyme causes lipids storage in tissues and organs of the body potentially causing a variety of symptoms. In the liver the consequences are hepatomegaly due to hepatic steatosis and fibrosis that can lead to micronodular cirrhosis. Some individuals may not be diagnosed with CESD until adulthood.
While mutations causing Wolman disease produce an enzyme with no residual activity or no enzyme at all, CESD-causing mutations encode for LAL which retains some enzyme activity Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. CESD belongs to a group of diseases known as lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. Defective lysosomal enzymes associated with CESD leads to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brighton, MA 02135
American Liver Foundation
75 Maiden Lane
New York, NY 10038
Lysosomal Diseases New Zealand
16 Woodleigh Place
Tauranga, Intl 6008
Tel: 07 544-8868
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
For a Complete Report
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html