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NINDS Refsum Disease Information Page

Synonym(s):   Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis

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What is Refsum Disease?

Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).  Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods.  As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues.  The disease usually begins in late childhood or early adulthood with increasing night blindness due to degeneration of the retina (retinitis pigmentosa).  If the disease progresses, other symptoms may include deafness, loss of the sense of smell (anosmia), problems with balance and coordination (ataxia), dry and scaly skin (ichthyosis), and heartbeat abnormalities (cardiac arrhythmias).  Some individuals will have shortened bones in their fingers or toes, or a visibly shortened fourth toe.  Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.

Is there any treatment?

The primary treatment for  ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock.  Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid.

What is the prognosis?

ARD is treatable because phytanic acid is not produced by the body, but is only found in foods.  With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear.  However, vision and hearing problems may persist and the sense of smell may not return.  Untreated, ARD can lead to sudden death caused by heartbeat abnormalities. 

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) supports research related to Adult Refsum Disease through grants to major research institutions across the country.  Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders.  

NIH Patient Recruitment for Refsum Disease Clinical Trials

Organizations

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United Leukodystrophy Foundation
224 North 2nd Street, Suite 2
DeKalb, IL   60115
office@ulf.org
http://www.ulf.org
Tel: 815-748-3211 800-728-5483
Fax: 815-748-0844

 


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 27, 2011