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Cholesteryl Ester Storage Disease

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • acid cholesteryl ester hydrolase deficiency, type 2
  • CESD
  • cholesterol ester hydrolase deficiency

Disorder Subdivisions

  • None

General Discussion

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.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
204
Brookline, MA 02146-4227
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
USA
Fax: (212)483-8179
Tel: (800)465-4837
Email: http://www.liverfoundation.org/contact/
Internet: http://www.liverfoundation.org

Lysosomal Diseases New Zealand
16 Woodleigh Place
Ohauiti
Tauranga, Intl 6008
New Zealand
Tel: 07 544-8868
Email: john.forman@xtra.co.nz
Internet: http://www.ldnz.org.nz

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/13/2009
Copyright  2009 National Organization for Rare Disorders, Inc.

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