Zellweger Spectrum Disorders

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Zellweger Spectrum Disorders 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

  • Generalized Peroxisomal Disorders
  • Peroxisomal Biogenesis Disorders
  • Zellweger Syndrome Spectrum
  • ZSS

Disorder Subdivisions

  • Cerebrohepatorenal Syndrome
  • Hyperpipecolic acidemia
  • Infantile Refsum Disease
  • IRD
  • Neonatal Adrenoleukodystrophy
  • NALD
  • Zellweger Syndrome
  • ZS

General Discussion

Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form. Zellweger spectrum disorders can affect most organs of the body. Neurological deficits, loss of muscle tone (hypotonia), hearing loss, vision problems, liver dysfunction, and kidney abnormalities are common findings. Zellweger spectrum disorders often result in severe, life-threatening complications early during infancy. Some individuals with milder forms have lived into adulthood. Zellweger spectrum disorders are inherited as autosomal recessive traits.

Zellweger spectrum disorders are also known as peroxisome biogenesis disorders (PBDs) - a group of disorders characterized by the failure of the body to produce peroxisomes that function properly. Peroxisomes are very small, membrane-bound structures within the gel-like fluid (cytoplasm) of cells that play a vital role in numerous biochemical processes in the body. PBDs are subdivided into the three Zellweger spectrum disorders and rhizomelic chondrodysplasia punctata.

Resources

The Arc
1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Hypoparathyroidism Association, Inc.
PO Box 2258
Idaho Falls, ID 83403
Tel: (866)213-0394
Fax: (205)524-3857
Tel: (866)213-0394
Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org
Internet: http://www.hypopara.org

United Leukodystrophy Foundation
224 N. 2nd St.
Suite 2
DeKalb, IL 60115
Tel: (815)748-3211
Tel: (800)728-5483
Email: office@ulf.org
Internet: http://www.ulf.org/

ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
54521
Laxou Cedex, 61024
France
Tel: 33383309334
Fax: 33383300068
Email: ela@ela-asso.com
Internet: http://www.ela-asso.com

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Internet: http://www.ninds.nih.gov/

Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker 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

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Zellweger Baby Support Network
9310 Groundhog Drive
Richmond, VA 23235
Tel: (605)642-2072
Fax: (605)642-7525
Email: pamfreeth@zbsn.org
Internet: http://www.zbsn.org

Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Internet: http://www.childrennetwork.org

Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue
Suite 181
Tulsa, OK 74135
Tel: (347)470-4373
Fax: (918)516-0227
Email: shannon@thegfpd.org
Internet: http://www.thegfpd.org

Council for Bile Acid Deficiency Diseases
8 Hitching Post Place
Rockville, MD 20852
Tel: (301)230-0101
Fax: (301)230-1407
Email: info@bileacid.org
Internet: http://www.bileacid.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:  9/15/2008
Copyright  1987, 1990, 1998, 2005, 2008 National Organization for Rare Disorders, Inc.

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