National Organization for Rare Disorders, Inc.
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 Back to top
- 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 Back to top
General Discussion Back to top
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 Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Foundation for Ichthyosis & Related Skin Types
2616 N Broad Street
Colmar, PA 18915
111 E 59th St
New York, NY 10022-1202
Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills, CA 91365
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60718
Blind Children's Fund
6761 W. US 12
PO Box 363
Three Oaks, MI 49128
ELA - European Association Against Leukodystrophies
2, rue Mi-les-Vignes
Laxou Cedex, 61024
Tel: 33 383 30 93 34
Fax: 33 383 30 00 68
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
National Registry for Ichthyosis and Related Disorders
University of Washington
Dermatology Dept. Box 356524
1959 N.E. Pacific Street
Seattle, WA 98195-6524
Hunter's Hope Foundation, Inc.
PO Box 643
6368 West Quaker Street
Orchard Park, NY 14127
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Zellweger Baby Support Network
9310 Groundhog Drive
Richmond, VA 23235
Tel: + 41 (0) 44 444 10 77
Fax: + 41 (0) 44 444 10 70
Perkins School for the Blind
175 North Beacon Street
Watertown, MA 02472
National Consortium on Deaf-Blindness
The Teaching Research Institute
345 N. Monmouth Avenue
Monmouth, OR 97361
For a Complete Report Back to top
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 email@example.com
Last Updated: 2/21/2008
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