Peroxisome biogenesis disorders

Common Name(s)

Peroxisome biogenesis disorders

The peroxisome biogenesis disorders (PBDs) neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS). The milder presentations and longer life spans of NALD and IRD result in a more varied initial presentation and natural history. There has been survival of mildly affected patients into adulthood. The phenotypic boundaries between children labeled with NALD or IRD is often blurred and it seems more appropriate to consider these disorders a continuum of PBD. While many children present in the newborn period, others may not come to attention until later. Most children have hypotonia, but unlike Zellweger syndrome there is a degree of psychomotor development - achieving head control, sitting unsupported, and even walking independently. Many communicate and although language is rare, there have been children who have near normal language for age. Craniofacial features are similar to but less pronounced than in Zellweger syndrome. Seizures may be present. Renal cysts and bony stippling are seen routinely. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity. This may stabilize, or progress and be fatal. The most common manifestation in this group of patients that is less apparent in ZS is the development of sensorineural hearing loss and retinitis pigmentosa (summary by {26:Steinberg et al., 2006}). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by {35:Waterham and Ebberink, 2012}). Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRD The phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by {6:Distel et al., 1996}). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21-q22; PBD2B ({202370}) is caused by mutation in the PEX5 gene ({600414}) on chromosome 12p13.3; PBD3B ({266510}) is caused by mutation in the PEX12 gene ({601758}) on chromosome 17; PBD4B ({614863}) is caused by mutation in the PEX6 gene ({601498}) on chromosome 6p21.1; PBD5B ({614867}) is caused by mutation in the PEX2 gene ({170993}) on chromosome 8q21.1; PBD6B ({614871}) is caused by mutation in the PEX10 gene ({602859}) on chromosome 1p36.32; PBD7B ({614873})is caused by mutation in the PEX26 gene ({608666}) on chromosome 22q11.21; PBD8B ({614877}) is caused by mutation in the PEX16 gene ({603360}) on chromosome 11p12-p12.2; and PBD11B ({614885}) is caused by mutation in the PEX13 gene ({601789}) on chromosome 2p15. See PBD1A ({214100}) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B; {614879}), are caused by mutation in the PEX7 gene ({601757}) on chromosome 6q22-q24.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peroxisome biogenesis disorders" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Peroxisome biogenesis disorders" 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 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 "Peroxisome biogenesis disorders" returned 17 free, full-text research articles on human participants. First 3 results:

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
 

Author(s): Wing Yan Yik, Steven J Steinberg, Ann B Moser, Hugo W Moser, Joseph G Hacia

Journal: Hum. Mutat.. 2009 Mar;30(3):E467-80.

 

Peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive neurodegenerative disorders that affect multiple organ systems. Approximately 80% of PBD patients are classified in the Zellweger syndrome spectrum (PBD-ZSS). Mutations in the PEX1, PEX6, PEX10, ...

Last Updated: 2 Mar 2009

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Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
 

Author(s): Satomi Furuki, Shigehiko Tamura, Naomi Matsumoto, Non Miyata, Ann Moser, Hugo W Moser, Yukio Fujiki

Journal: J. Biol. Chem.. 2006 Jan;281(3):1317-23.

 

Peroxisome biogenesis disorders (PBDs) are fatal autosomal recessive diseases and are caused by impaired peroxisome biogenesis. PBDs are genetically heterogeneous and classified into 13 complementation groups (CGs). CG8 is one of the most common groups and has three clinical phenotypes, ...

Last Updated: 17 Jan 2006

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Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
 

Author(s): Naomi Matsumoto, Shigehiko Tamura, Satomi Furuki, Non Miyata, Ann Moser, Nobuyuki Shimozawa, Hugo W Moser, Yasuyuki Suzuki, Naomi Kondo, Yukio Fujiki

Journal: Am. J. Hum. Genet.. 2003 Aug;73(2):233-46.

 

The human disorders of peroxisome biogenesis (PBDs) are subdivided into 12 complementation groups (CGs). CG8 is one of the more common of these and is associated with varying phenotypes, ranging from the most severe, Zellweger syndrome (ZS), to the milder neonatal adrenoleukodystrophy ...

Last Updated: 17 Jul 2003

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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 "Peroxisome biogenesis disorders" returned 4 free, full-text review articles on human participants. First 3 results:

Genetics and molecular basis of human peroxisome biogenesis disorders.
 

Author(s): Hans R Waterham, Merel S Ebberink

Journal: Biochim. Biophys. Acta. 2012 Sep;1822(9):1430-41.

 

Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are caused by defects ...

Last Updated: 8 Aug 2012

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Peroxisome biogenesis disorders: molecular basis for impaired peroxisomal membrane assembly: in metabolic functions and biogenesis of peroxisomes in health and disease.
 

Author(s): Yukio Fujiki, Yuichi Yagita, Takashi Matsuzaki

Journal: Biochim. Biophys. Acta. 2012 Sep;1822(9):1337-42.

 

Peroxisome is a single-membrane organelle in eukaryotes. The functional importance of peroxisomes in humans is highlighted by peroxisome-deficient peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome (ZS). Gene defects of peroxins required for both membrane assembly and ...

Last Updated: 23 Jul 2012

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Peroxisome biogenesis disorders.
 

Author(s): Steven J Steinberg, Gabriele Dodt, Gerald V Raymond, Nancy E Braverman, Ann B Moser, Hugo W Moser

Journal: Biochim. Biophys. Acta. 2006 Dec;1763(12):1733-48.

 

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic ...

Last Updated: 15 Dec 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Betaine and Peroxisome Biogenesis Disorders
 

Status: Recruiting

Condition Summary: Peroxisome Biogenesis Disorder (PBD)

 

Last Updated: 7 Aug 2013

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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
 

Status: Recruiting

Condition Summary: Peroxisome Biogenesis Disorders

 

Last Updated: 8 Aug 2013

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