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.
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.
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
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