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

Refsum Disease


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

Disorder Subdivisions



    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.

    Organizations related to Refsum Disease
    • Blind Children's Fund
      311 W. Broadway
      Mt. Pleasant MI 48858
      Phone #: 989-779-9966
      800 #: --
      e-mail: bcf@blindchildrensfund.org
      Home page: http://www.blindchildrensfund.org
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Chromosome
      11435 Cronhill Drive
      Owings Mills MD 21117-2220
      Phone #: 410-568-0150
      800 #: 800-683-5555
      e-mail: info@blindness.org
      Home page: http://www.fightblindness.org
    • 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
    • Foundation for Ichthyosis & Related Skin Types
      1364 Welsh Road G2
      North Wales PA 19454
      Phone #: 215-619-0670
      800 #: 800-545-3286
      e-mail: info@scalyskin.org
      Home page: http://www.scalyskin.org
    • 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
    • Let Them Hear Foundation
      1900 University Ave #101
      East Palo Alto CA 94303
      Phone #: 650-462-3143
      800 #: 877-735-2929
      e-mail: info@letthemhear.org
      Home page: http://www.letthemhear.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 Association for Visually Handicapped
      22 West 21st Street
      New York NY 10010
      Phone #: 212-889-3141
      800 #: --
      e-mail: staff@navh.org
      Home page: http://www.navh.org
    • National Consortium on Deaf-Blindness (NCDB)
      The Teaching Research Institute
      Monmouth OR 97361
      Phone #: 800-438-9376
      800 #: 800-438-9376
      e-mail: info@nationaldb.org
      Home page: http://www.nationaldb.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/
    • National Registry for Ichthyosis and Related Disorders
      University of Washington
      Seattle WA 98195-6524
      Phone #: 206-616-3179
      800 #: 800-595-1265
      e-mail: ichreg@u.washington.edu
      Home page: http://www.skinregistry.org
    • Perkins School for the Blind
      175 North Beacon St.
      Watertown MA 02472
      Phone #: 617-924-3434
      800 #: N/A
      e-mail: Info@Perkins.org
      Home page: http://www.Perkins.org
    • Retina International
      Ausstellungsstrasse 36
      Z?rich None None
      Phone #: (0)-44 -444 10 77
      800 #: N/A
      e-mail: c.fasser@e-link.ch
      Home page: http://www.retina-international.org
    • Retinitis Pigmentosa International
      P.O. Box 900
      Woodland Hills CA 91365
      Phone #: 818-992-0500
      800 #: 800-344-4877
      e-mail: info@international.org
      Home page: http://www.rpinternational.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