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Diseases

Genetic and Rare Diseases Information Center (GARD)

Refsum disease, infantile form


Other Names for this Disease
  • Infantile form of phytanic acid storage disease
  • Infantile Refsum disease
  • IRD
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Overview

Infantile Refsum disease is the mildest of a group of disorders known as peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS). PBD-ZSS is a group of inherited genetic disorders that damage the white matter of the brain and affect motor movements.[1][2]  Peroxisome biogenesis disorders, in turn, are part of a larger group of disorders called leukodystrophies.[2] IRD can cause low muscle tone (hypotonia), retinitis pigmentosa (a visual impairment that can lead to blindness), developmental delay, sensorineural hearing loss, and liver dysfunction. IRD usually presents at birth or in infancy. Most individuals with IRD can achieve motor milestones, though they may be delayed, and most individuals can communicate with a few words or signs. Leukodystrophy with loss of acquired skills can occur at any age and may stabilize or progress. Peroxisome biogenesis disorders are caused by mutations in one of the PEX genes and are inherited in an autosomal recessive manner.  Life expectancy, medical complications, and the degree of neurological impairment can vary. Survival into adulthood is possible.[1] Adult Refsum disease and infantile refsum disease are separate disorders caused by different genetic defects.[2]
Last updated: 5/20/2015

References

  1. Nancy Braverman. Infantile Refsum disease. Orphanet. December 2012; http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=772. Accessed 5/20/2015.
  2. NINDS Infantile Refsum Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 27, 2011; http://www.ninds.nih.gov/disorders/refsum_infantile/refsum_infantile.htm. Accessed 5/20/2015.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Refsum disease, infantile form. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Infantile form of phytanic acid storage disease
  • Infantile Refsum disease
  • IRD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.