Refsum disease

What is Refsum disease?
Adult Refsum disease (ARD) is one of a group of genetic diseases called leukodystrophies, which damage the white matter of the brain and affect motor movements. Due to a genetic abnormality, people with ARD disease lack the enzyme that breaks down phytanic acid, a substance commonly found in 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 with increasing night blindness due to degeneration of the retina (retinitis pigmentosa) and loss of the sense of smell (anosmia). If the disease progresses, other symptoms may include deafness, problems with balance and coordination (ataxia), weakness or numbness (peripheral neuropathy), 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 the most treatable of the leukodystrophies 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 death caused by heartbeat abnormalities.

What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to ARD in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Research is focused on finding better ways to prevent, treat, and ultimately cure ARD and other peroxisomal disorders.

To see Refsum disease clinical trials, click here.

Organizations
United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
https://www.ulf.org
815-895-3211, 800-728-5483

This information was developed by the National Institute of Neurological Disorders and Stroke, National Institutes of Health.

National Institute of Neurological Disorders and Stroke, National Institutes of Health. NINDS Refsum Disease Information Page. Available at: https://www.ninds.nih.gov/health-information/disorders/refsum-disease-adult. Accessed April 26, 2023.

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