Zellweger Syndrome


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Important

It is possible that the main title of the report Zellweger Syndrome 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


  • Bowen Syndrome
  • Cerebrohepatorenal Syndrome

Disorder Subdivisions


  • None

General Discussion


Zellweger syndrome is a rare, hereditary disorder characterized by a deficiency or absence of peroxisomes in the cells of the liver, kidneys, and brain. Peroxisomes are very small, membrane-bound structures within the cytoplasm of cells that function as part of the body’s waste disposal system. In the absence of the enzymes normally found in peroxisomes, waste products, especially very long chain fatty acids (VLCFA), accumulate in the cells of the affected organ. The accumulation of these waste products has profound affects on the development of the fetus.



Zellweger syndrome is one of a group of genetic disorders known as leukodystrophies that affect growth of the myelin sheath, which lines nerve fibers in the brain and speeds the conduction of nerve impulses.


Resources


The Arc (a national organization on mental retardation)

1010 Wayne Ave

Suite 650

Silver Spring, MD 20910

Tel: (301)565-3842

Fax: (301)565-3843

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org/



United Leukodystrophy Foundation

2304 Highland Drive

Sycamore, IL 60178

Tel: (815)895-3211

Fax: (815)895-2432

Tel: (800)728-5483

Email: office@ulf.org

Internet: http://www.ulf.org/



Association Europeene contre les Leucodystrophes

53 cours Leopold

B.P. 267

Nancy, 54005

France

Tel: 333 83 30 93 34

Fax: 333 83 30 00 68

Email: ela@ela-assoc.com

Internet: www.ela-assoc.com



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/



Hunter's Hope Foundation, Inc.

PO Box 643

3859 N. Buffalo Street

Orchard Park, NY 14127

Tel: (716)667-1200

Fax: (716)667-1212

Tel: (877)984-4673

Email: info@huntershope.org

Internet: http://www.huntershope.org



Zellweger Baby Support Network

1852 Iron Horse Loop

Spearfish, SD 57783

Tel: (605)642-2072

Fax: (605)642-7525

Email: pamfreeth@zbsn.org

Internet: http://www.zbsn.org and http://groups.msn.com/ZellwegerBabySupportNetwork/welcometozbsn1.msnw




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

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:   4/1/2005

Copyright   1987, 1990, 1998, 2005 National Organization for Rare Disorders, Inc.


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Last updated: April 01, 2005

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