D-Bifunctional Protein Deficiency

Common Name(s)

D-Bifunctional Protein Deficiency, Bifunctional peroxisomal enzyme deficiency

D-bifunctional enzyme deficiency (sometimes referred to as pseudo-Zellweger syndrome) is a genetic disorder typically characterized by hypotonia (low muscle tone) and seizures within the first month of life, vision and hearing problems, distinct facial features, and developmental delay. Some children with D-bifunctional enzyme deficiency also go on to develop liver disease and/or a progressive leukodystrophy. Most people who have D-bifunctional enzyme deficiency pass within the first 2 years of life; however, there have been a few reported cases of patients living beyond 2 years of life. Treatment is symptomatic and supportive.  D-bifunctional enzyme deficiency is caused by mutations in the HSD17B4 gene and is believed to be inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "D-Bifunctional Protein Deficiency" 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.

Last Updated: 6 Apr 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 "D-Bifunctional Protein Deficiency" 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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General Resources

Letter for Physicians

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

Updated 6 Jan 2013

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Letter for Lab Directors

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

Updated 6 Jan 2013

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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 "D-Bifunctional Protein Deficiency" returned 7 free, full-text research articles on human participants. First 3 results:

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.
 

Author(s): Matthew A Lines, Rebekah Jobling, Lauren Brady, Christian R Marshall, Stephen W Scherer, Amadeo R Rodriguez, Liesly Lee, Anthony E Lang, Tiago A Mestre, Ronald J A Wanders, Sacha Ferdinandusse, Mark A Tarnopolsky,

Journal: Neurology. 2014 Mar;82(11):963-8.

 

To determine the causative genetic lesion in 3 adult siblings with a slowly progressive, juvenile-onset phenotype comprising cerebellar atrophy and ataxia, intellectual decline, hearing loss, hypogonadism, hyperreflexia, a demyelinating sensorimotor neuropathy, and (in 2 of 3 probands) ...

Last Updated: 18 Mar 2014

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On the molecular basis of D-bifunctional protein deficiency type III.
 

Author(s): Maija L Mehtälä, Marc F Lensink, Laura P Pietikäinen, J Kalervo Hiltunen, Tuomo Glumoff

Journal: PLoS ONE. 2013 ;8(1):e53688.

 

Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis in vivo in yeast and in vitro ...

Last Updated: 11 Jan 2013

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Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
 

Author(s): Sacha Ferdinandusse, Mari S Ylianttila, Jolein Gloerich, M Kristian Koski, Wendy Oostheim, Hans R Waterham, J Kalervo Hiltunen, Ronald J A Wanders, Tuomo Glumoff

Journal: Am. J. Hum. Genet.. 2006 Jan;78(1):112-24.

 

D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. The clinical presentation of DBP deficiency is usually very severe, but a few patients with a relatively mild presentation have been identified. In this article, we ...

Last Updated: 30 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 "D-Bifunctional Protein 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

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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