Refsum disease

Common Name(s)

Refsum disease

Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Refsum disease" for support, advocacy or research.

The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Refsum disease" for support, advocacy or research.

The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Refsum disease" returned 17 free, full-text research articles on human participants. First 3 results:

Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.
 

Author(s): G K Menon, E Orsó, Charalampos Aslanidis, D Crumrine, G Schmitz, Peter M Elias

Journal: Arch. Dermatol. Res.. 2014 Oct;306(8):731-7.

 

Classic Refsum disease (RD) is a rare, autosomal recessively-inherited disorder of peroxisome metabolism due to a defect in the initial step in the alpha oxidation of phytanic acid (PA), a C16 saturated fatty acid with four methyl side groups, which accumulates in plasma and lipid ...

Last Updated: 19 Sep 2014

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[Refsum disease--a rare cause of polyneuropathy].
 

Author(s): Morten Andreas Horn, Ola Hunsbeth Skjeldal

Journal: Tidsskr. Nor. Laegeforen.. 2007 Aug;127(15):1960.

 

Last Updated: 16 Aug 2007

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[Refsum disease--a rare cause of polyneuropathy].
 

Author(s): Morten Andreas Hornt

Journal: Tidsskr. Nor. Laegeforen.. 2007 Aug;127(15):1960-1.

 

Last Updated: 16 Aug 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Refsum disease" returned 1 free, full-text review articles on human participants. First 3 results:

Refsum disease, peroxisomes and phytanic acid oxidation: a review.
 

Author(s): R J Wanders, G A Jansen, O H Skjeldal

Journal: J. Neuropathol. Exp. Neurol.. 2001 Nov;60(11):1021-31.

 

Refsum disease was first recognized as a distinct disease entity by Sigvald Refsum in the 1940s. The discovery of markedly elevated levels of the branched-chain fatty acid phytanic acid in certain patients marked Refsum disease as a disorder of lipid metabolism. Although it was immediately ...

Last Updated: 14 Nov 2001

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 21 Mar 2016

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Betaine and Peroxisome Biogenesis Disorders
 

Status: Recruiting

Condition Summary: Peroxisome Biogenesis Disorder (PBD)

 

Last Updated: 7 Aug 2013

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