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.
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 |
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Last updated February 14, 2007