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.
Phytanic Acid Storage Disease
Hypertrophic Neuropathy of Refsum
Heredopathia Atactica Polyneuritiformis
DOC 11 (Phytanic Acid Type)
Disorder of Cornification 11 (Phytanic Acid Type)
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.
Children Living with Inherited Metabolic Diseases (CLIMB) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 0845 241 2174 Tel: 800 652 3181 Email: email@example.com 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: firstname.lastname@example.org Internet: http://www.firstskinfoundation.org
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Retinitis Pigmentosa International P.O. Box 900 Woodland Hills, CA 91365 Tel: (818)992-0500 Fax: (818)992-3265 Tel: (800)344-4877 Email: firstname.lastname@example.org Internet: http://www.rpinternational.org
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60718 Fax: (815)895-2432 Tel: (800)728-5483 Email: email@example.com Internet: http://www.ulf.org/
Blind Children's Fund 6761 W. US 12 PO Box 363 Three Oaks, MI 49128 Tel: (989)779-9966 Fax: (269)756-3133 Email: firstname.lastname@example.org Internet: http://www.blindchildrensfund.org
ELA - European Association Against Leukodystrophies 2, rue Mi-les-Vignes 54521 Laxou Cedex, 61024 France Tel: 33 383 30 93 34 Fax: 33 383 30 00 68 Email: email@example.com Internet: http://www.ela-asso.com
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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: email@example.com 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: firstname.lastname@example.org Internet: http://www.huntershope.org
MUMS National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: email@example.com Internet: http://www.netnet.net/mums/
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Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
Let Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Tel: (650)462-3143 Fax: (650)462-3144 Tel: (877)735-2929 Email: email@example.com Internet: http://www.letthemhear.org
Zellweger Baby Support Network 9310 Groundhog Drive Richmond, VA 23235 Tel: (605)642-2072 Fax: (605)642-7525 Email: firstname.lastname@example.org Internet: http://www.zbsn.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: email@example.com Internet: http://www.nationaldb.org
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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
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