Peroxisomal acyl-coA oxidase deficiency

Common Name(s)

Peroxisomal acyl-coA oxidase deficiency, Pseudoneonatal adrenoleukodystrophy

Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency ({261515}), caused by mutation in the HSD17B4 gene ({601860}) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (see {601539}) ({9:Watkins et al., 1995}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peroxisomal acyl-coA oxidase deficiency" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

Last Updated: 16 Apr 2015

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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.

Last Updated: 6 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peroxisomal acyl-coA oxidase deficiency" for support, advocacy or research.

ALD Life

A charity to promote awareness, research and prevention of Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN). ALD Life enables sufferers of ALD and AMN worldwide a forum to come together to support and advise each other. We provide financial and emotional support as well as practical advice and updates on research innovations, as well as raising funds for research and treatments.

http://www.aldlife.org

Last Updated: 16 Apr 2015

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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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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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ALD-AMN Route Map

A dedicated website for providing patients and families affected by Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) a journey of their health and social care needs.

Uploaded By: ALD Life

Updated 4 Apr 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 "Peroxisomal acyl-coA oxidase deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.
 

Author(s): Y Suzuki, N Shimozawa, S Yajima, S Tomatsu, N Kondo, Y Nakada, S Akaboshi, M Lai, Y Tanabe, T Hashimoto

Journal: Am. J. Hum. Genet.. 1994 Jan;54(1):36-43.

 

We describe four infants with a novel subtype of an isolated deficiency of one of the peroxisomal beta-oxidation enzymes with detectable enzyme protein. The patients showed characteristic clinical and biochemical abnormalities, including hypotonia, psychomotor retardation, hepatomegaly, ...

Last Updated: 4 Feb 1994

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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).
 

Author(s): B T Poll-The, F Roels, H Ogier, J Scotto, J Vamecq, R B Schutgens, R J Wanders, C W van Roermund, M J van Wijland, A W Schram

Journal: Am. J. Hum. Genet.. 1988 Mar;42(3):422-34.

 

In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy. In contrast to neonatal adrenoleukodystrophy patients, hepatic peroxisomes in these siblings were enlarged in size and not decreased ...

Last Updated: 13 Apr 1988

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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 "Peroxisomal acyl-coA oxidase deficiency" 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.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.