Zellweger Spectrum Disorders

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Zellweger Spectrum Disorders is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

 

<span style="font-weight: 400;">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. </span>Zellweger syndrome was described in the medical literature in 1964 by Dr. Hans Zellweger. Neonatal adrenoleukodystrophy and infantile Refsum disease were described later. As the molecular and biochemical understanding of these disorders improved, it became apparent that they represented variants of one disorder and some researchers started using the term "Zellweger spectrum disorder" to describe these disorders. A fourth disorder known as hyperpipecolic acidemia is also considered part of this spectrum.

Supporting Organizations

Childhood Liver Disease Research and Education Network

c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Website: http://www.childrennetwork.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
Website: http://www.bileacid.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
Website: http://www.ela-asso.com

Global Foundation for Peroxisomal Disorders

5147 South Harvard Avenue
Suite 181
Tulsa, OK 74135
Tel: (347)470-4373
Fax: (918)516-0227
Email: contactus@thegfpd.org
Website: http://www.thegfpd.org

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
Website: http://www.huntershope.org

Hypoparathyroidism Association, Inc.

PO Box 2258
Idaho Falls, ID 83403
Tel: (208)524-3857
Fax: (205)524-3857
Tel: (866)213-0394
Email: jsanders@hypopara.org
Website: http://www.hypopara.org

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

The Arc

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

United Leukodystrophy Foundation

224 N. 2nd St.
Suite 2
DeKalb, IL 60115
Tel: (815) 748-3211
Fax: (815) 748-0844
Tel: (800) 728-5483
Email: bobbi@ulf.org
Website: http://www.ulf.org/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  3/7/2016
Copyright  2016 National Organization for Rare Disorders, Inc.