Refsum disease, infantile form

Common Name(s)

Refsum disease, infantile form, Infantile Refsum's disease

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {5:Waterham and Ebberink, 2012}). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}. Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Global Foundation for Peroxisomal Disorders

The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD. Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. The GFPD currently connects more than 200 families in over 20 countries.

http://www.thegfpd.org

Last Updated: 6 Apr 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Global Foundation for Peroxisomal Disorders

The Global Foundation for Peroxisomal Disorders (GFPD) was founded in 2010 by parents whose children are impacted by Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). GFPD is a 501(c)(3) non-profit public charity committed to funding research to develop a greater understanding of PBD-ZSD. Additionally, GFPD organizes family support and informational conferences, connects families through an online support group, and provides an equipment exchange program. The GFPD currently connects more than 200 families in over 20 countries.

http://www.thegfpd.org

Last Updated: 6 Apr 2013

View Details

 

General Support Organizations

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General Resources

Letter for Physicians

Letter for physicians who diagnosis/treat individuals impacted by PBD-ZSD.

Updated 6 Jan 2013

Open Doc
Letter for Lab Directors

Letter for laboratories who diagnosis individuals impacted by PBD-ZSD.

Updated 6 Jan 2013

Open Doc
Frequently Asked Questions about PBD-ZSD

Frequently Asked Questions about Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD) compiled by the Global Foundation for Peroxisomal Disorders

Updated 6 Jan 2013

Open Doc
GENEReveiws article "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum"

This article by Steven J Steinberg, PhD, Gerald V Raymond, MD, Nancy E Braverman, MS, MD, and Ann B Moser, BA. was updated in May 2012 and is the most comprehensive English-language paper about this disorder.

Updated 7 Jan 2013

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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, infantile form" returned 0 free, full-text research articles on human participants.

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, infantile form" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.