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.
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.
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Hypoparathyroidism Association, Inc.
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United Leukodystrophy Foundation
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ELA - European Association Against Leukodystrophies
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NIH/National Institute of Neurological Disorders and Stroke
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Hunter's Hope Foundation, Inc.
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MUMS National Parent-to-Parent Network
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Green Bay, WI 54301-1243
PO Box 241956
Los Angeles, CA 90024
Zellweger Baby Support Network
9310 Groundhog Drive
Richmond, VA 23235
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
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Aurora, CO 80045
Global Foundation for Peroxisomal Disorders
5147 South Harvard Avenue
Tulsa, OK 74135
Council for Bile Acid Deficiency Diseases
8 Hitching Post Place
Rockville, MD 20852
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
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.
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Last Updated: 9/15/2008
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