Zellweger syndrome

Common Name(s)

Zellweger syndrome

Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities. Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner. There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Zellweger syndrome" 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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Zellweger syndrome" 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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 "Zellweger syndrome" returned 52 free, full-text research articles on human participants. First 3 results:

Early Onset Hepatocellular Disease in an Infant with Zellweger Syndrome.
 

Author(s): Mehri Najafi Sani, Mitra Ahmadi, Pejman Roohani, Nima Rezaei

Journal: Acta Med Iran. 2015 Oct;53(10):656-8.

 

Zellweger syndrome (ZS) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. Herein, a 3-month-old female with ZS is presented who was referred ...

Last Updated: 30 Nov 2015

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Clinical utility gene card for: Zellweger syndrome spectrum.
 

Author(s): Hendrik Rosewich, Hans Waterham, Bwee Tien Poll-The, Andreas Ohlenbusch, Jutta Gärtner

Journal: Eur. J. Hum. Genet.. 2015 Aug;23(8):.

 

Last Updated: 16 Jul 2015

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A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.
 

Author(s): Sebastien Levesque, Charles Morin, Simon-Pierre Guay, Josee Villeneuve, Pascale Marquis, Wing Yan Yik, Sarn Jiralerspong, Luigi Bouchard, Steven Steinberg, Joseph G Hacia, Ken Dewar, Nancy E Braverman

Journal:

 

Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved.

Last Updated: 30 Oct 2012

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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 "Zellweger syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Child neurology: Zellweger syndrome.
 

Author(s): Paul R Lee, Gerald V Raymond

Journal: Neurology. 2013 May;80(20):e207-10.

 

Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a ...

Last Updated: 14 May 2013

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Zellweger syndrome and associated phenotypes.
 

Author(s): D R FitzPatrick

Journal: J. Med. Genet.. 1996 Oct;33(10):863-8.

 

Until recently, the peroxisome was considered a "reactor chamber" for H2O2 producing oxidases, and it is now recognised as a versatile organelle performing complex catabolic and biosynthetic roles in the cell. Zellweger syndrome (ZS), the paradigm of human peroxisomal disorders, is ...

Last Updated: 21 Feb 1997

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Clinical Trial Information This information is provided by ClinicalTrials.gov

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Disorders; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Alpha-Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann-Pick B; Niemann-Pick C Subtype 2; Sphingomyelin Deficiency; Peroxisomal Disorders; Adrenoleukodystrophy With Cerebral Involvement; Zellweger Syndrome; Neonatal Adrenoleukodystrophy; Infantile Refsum Disease; Acyl-CoA Oxidase Deficiency; D-Bifunctional Enzyme Deficiency; Multifunctional Enzyme Deficiency; Alpha-methylacyl-CoA Racmase Deficiency; Mitochondrial Neurogastrointestingal Encephalopathy; Severe Osteopetrosis; Hereditary Leukoencephalopathy; Inherited Metabolic Disorders

 

Last Updated: 22 Mar 2017

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