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"Resources" on this report.
Copyright 1987, 1988, 1990, 1993, 1995, 2004
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.
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Organizations related to Refsum Disease
- Blind Children's Fund
201 S. University Avenue
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
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: 084-5 2-41 2174
800 #: 080-0 6-52 3181
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- ELA - European Association against Leukodystrophies
2, rue Mi-les-Vignes
54521
Laxou Cedex None 61024
Phone #: 33 -383- 30 93 34
800 #: --
e-mail: ela@ela-asso.com
Home page: http://www.ela-asso.com
- Foundation Fighting Blindness
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
- 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
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
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 Avenue, Suite 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 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
Western Oregon University
345 N. Monmouth Ave.
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)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- National Registry for Ichthyosis and Related Disorders
University of Washington
Dermatology Department, Box 356524
1959 N.E. Pacific
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
CH-8005
Zürich 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
9310 Groundhog Drive
Richmond VA 23235
Phone #: 605-642-2072
800 #: N/A
e-mail: pamfreeth@zbsn.org
Home page: http://www.zbsn.org
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