Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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