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.
Generalized Peroxisomal Disorders
Peroxisomal Biogenesis Disorders
Zellweger Syndrome Spectrum
Infantile Refsum Disease
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.
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: email@example.com 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: firstname.lastname@example.org. email@example.com. firstname.lastname@example.org. email@example.com 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: firstname.lastname@example.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: email@example.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: firstname.lastname@example.org Internet: http://www.huntershope.org
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Zellweger Baby Support Network 9310 Groundhog Drive Richmond, VA 23235 Tel: (605)642-2072 Fax: (605)642-7525 Email: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.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: email@example.com 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".
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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
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Last Updated: 9/15/2008 Copyright 1987, 1990, 1998, 2005, 2008 National Organization for Rare Disorders, Inc.
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