Zellweger Spectrum Disorders / Disease

Diseases & Conditions

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Zellweger Spectrum Disorders

Synonyms of Zellweger Spectrum Disorders

Generalized Peroxisomal Disorders
Peroxisomal Biogenesis Disorders
Zellweger Syndrome Spectrum
ZSS

Disorder Subdivisions

Cerebrohepatorenal Syndrome
Hyperpipecolic acidemia
Infantile Refsum Disease
IRD
NALD
Neonatal Adrenoleukodystrophy
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.

Organizations related to Zellweger Spectrum Disorders

ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
Laxou None 54520
Phone #: 33 -383- 30 93 34
800 #: --
e-mail: ela@ela-asso.com
Home page: http://www.ela-asso.com
Hunter's Hope Foundation, Inc.
PO Box 643
Orchard Park NY 14127
Phone #: 716-667-1200
800 #: 877-984-4673
e-mail: info@huntershope.org
Home page: http://www.huntershope.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore IL 60178
Phone #: 815-895-3211
800 #: 800-728-5483
e-mail: office@ulf.org
Home page: http://www.ulf.org/
Zellweger Baby Support Network
1852 Iron Horse Loop
Spearfish SD 57783
Phone #: 605-642-2072
800 #: N/A
e-mail: pamfreeth@zbsn.org
Home page: http://www.zbsn.org

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