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: 14 Jan 2013

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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: 14 Jan 2013

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:

[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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Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.
 

Author(s): Michael A McDonough, Kathryn L Kavanagh, Danica Butler, Timothy Searls, Udo Oppermann, Christopher J Schofield

Journal: J. Biol. Chem.. 2005 Dec;280(49):41101-10.

 

Refsum disease (RD), a neurological syndrome characterized by adult onset retinitis pigmentosa, anosmia, sensory neuropathy, and phytanic acidaemia, is caused by elevated levels of phytanic acid. Many cases of RD are associated with mutations in phytanoyl-CoA 2-hydroxylase (PAHX), ...

Last Updated: 5 Dec 2005

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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 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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

Study of Bile Acids in Patients With Peroxisomal Disorders
 

Status: Not yet recruiting

Condition Summary: Infantile Refsum's Disease; Zellweger Syndrome; Bifunctional Enzyme Deficiency; Adrenoleukodystrophy

 

Last Updated: 23 Jun 2005

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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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