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NINDS Infantile Refsum Disease Information Page

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Synonym(s):   Infantile Phytanic Acid Storage Disease, Refsum Disease - Infantile

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What is Infantile Refsum Disease?

Infantile Refsum disease (IRD) is one of a small group of genetic diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases called the leukodystrophies.  These are inherited conditions that damage the white matter of the brain and affect motor movements.  IRD is the mildest of the PBDs; Zellweger syndrome, neonatal adrenoleukodystrophy, and rhizomelic chondrodysplasia have similar, but more severe, symptoms.  The PBDs are caused by defects in the genes that are associated with the breakdown of 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.  Symptoms of IRD begin in infancy with a visual impairment called retinitis pigmentosa, which often leads to blindness, and hearing problems that usually progress to deafness by early childhood.  Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth retardation; mild abnormalities in the form and structure of the face (dysmorphia); enlargement of the liver (hepatomegaly); and low cholesterol (hypocholesterolemia).  Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different biomechanisms involved in the breakdown of phytanic acid. 

Is there any treatment?

The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock.  Some infants and children 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?

IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to IRD 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 disorders such as the PBDs.

NIH Patient Recruitment for Infantile Refsum Disease Clinical Trials

Organizations

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL   60178
office@ulf.org
http://www.ulf.org
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

 National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291


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



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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 February 14, 2007