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    Refsum Disease

    Important
    It is possible that the main title of the report Refsum Disease 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.

    Synonyms

    • Refsum Disease
    • Phytanic Acid Storage Disease
    • Hypertrophic Neuropathy of Refsum
    • Heredopathia Atactica Polyneuritiformis
    • DOC 11 (Phytanic Acid Type)
    • Disorder of Cornification 11 (Phytanic Acid Type)

    Disorder Subdivisions

    • None

    General Discussion

    Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism, the myelin sheath that insulates and protects the nerves of the brain fails to grow. It is inherited as an autosomal recessive trait. It is characterized by progressive loss of vision (retinitis pigmentosa); degenerative nerve disease (peripheral neuropathy); failure of muscle coordination (ataxia); and dry, rough, scaly skin (ichthyosis).

    The disorder is caused by the accumulation of a particular fatty acid (phytanic acid) in blood plasma and tissues. This occurs because of a malfunction of the gene that makes the enzyme that breaks down (metabolizes) this acid. The essential enzyme is absent.

    Treatment with a diet low in foods that contain phytanic acid can be beneficial. Our bodies cannot make phytanic acid. Instead, it is introduced to the body in certain foods, including dairy products, beef, lamb and some seafood.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    Foundation Fighting Blindness
    7168 Columbia Gateway Drive, Suite 100
    Columbia, MD 21046
    Tel: (410)423-0600
    Fax: (410)872-0574
    Tel: (800)683-5555
    TDD: (800)683-5551
    Email: info@FightBlindness.org
    Internet: http://www.blindness.org/

    Foundation for Ichthyosis & Related Skin Types
    2616 N Broad Street
    Colmar, PA 18915
    Tel: (215)997-9400
    Fax: (215)997-9403
    Tel: (800)545-3286
    Email: info@firstskinfoundation.org
    Internet: http://www.firstskinfoundation.org

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.org

    Retinitis Pigmentosa International
    P.O. Box 900
    Woodland Hills, CA 91365
    Tel: (818)992-0500
    Fax: (818)992-3265
    Tel: (800)344-4877
    Email: info@rpinternational.org
    Internet: http://www.rpinternational.org

    United Leukodystrophy Foundation
    224 N. 2nd St.
    Suite 2
    DeKalb, IL 60115
    Tel: (815)748-3211
    Tel: (800)728-5483
    Email: office@ulf.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: ela@ela-asso.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/

    National Registry for Ichthyosis and Related Disorders
    University of Washington
    Dermatology Dept. Box 356524
    1959 N.E. Pacific Street
    Seattle, WA 98195-6524
    Tel: (800)595-1265
    Email: info@skinregistry.org
    Internet: http://www.skinregistry.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
    Internet: http://www.huntershope.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    Zellweger Baby Support Network
    9310 Groundhog Drive
    Richmond, VA 23235
    Tel: (605)642-2072
    Fax: (605)642-7525
    Email: pamfreeth@zbsn.org
    Internet: http://www.zbsn.org

    Retina International
    Ausstellungsstrasse 36
    CH-8005
    Zürich,
    Switzerland
    Tel: 410444441077
    Fax: 410444441070
    Email: christina.fasser@retina-international.org
    Internet: http://www.retina-international.org

    Perkins School for the Blind
    175 North Beacon Street
    Watertown, MA 02472
    Tel: (617)924-3434
    Fax: (617)926-2027
    Email: Info@Perkins.org
    Internet: http://www.Perkins.org

    National Consortium on Deaf-Blindness
    The Teaching Research Institute
    345 N. Monmouth Avenue
    Monmouth, OR 97361
    Tel: (800)438-9376
    Fax: (503)838-8150
    Tel: (800)438-9376
    TDD: (800)854-7013
    Email: info@nationaldb.org
    Internet: http://www.nationaldb.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".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 2/21/2008
    Copyright 1987, 1988, 1990, 1993, 1995, 2004 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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