digplanet beta 1: Athena
Share digplanet:

Agriculture

Applied sciences

Arts

Belief

Business

Chronology

Culture

Education

Environment

Geography

Health

History

Humanities

Language

Law

Life

Mathematics

Nature

People

Politics

Science

Society

Technology

Zellweger syndrome
Classification and external resources
ICD-10 Q87.8
ICD-9 277.86, 759.8
OMIM 214100
DiseasesDB 14248
MeSH D015211

Zellweger syndrome, also called cerebrohepatorenal syndrome, is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual.[1] It is one of a family of disorders called leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.[2][3]

Signs and symptoms[edit]

Zellweger syndrome is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD).[4] The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).[5][6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders.[7]

Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development.[4] In addition, individuals with Zellweger syndrome can show a reduction in central nervous system (CNS) myelin (particularly cerebral), which is referred to as hypomyelination. Myelin is critical for normal CNS functions, and in this regard, serves to insulate nerve fibers in the brain. Patients can also show postdevelopmental sensorineuronal degeneration that leads to a progressive loss of hearing and vision.[4]

Zellweger syndrome can also affect the function of many other organ systems. Patients can show craniofacial abnormalities (such as a high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanel), hepatomegaly (enlarged liver), chondrodysplasia punctata (punctate calcification of the cartilage in specific regions of the body), eye abnormalities, and renal cysts.[4] Newborns may present with profound hypotonia (low muscle tone), seizures, apnea, and an inability to eat.[4][7]

Cause[edit]

Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. Most commonly, patients have mutations in the PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, and PEX26 genes.[8] In almost all cases, patients have mutations that inactivate or greatly reduce the activity of both the maternal and paternal copies of one these aforementioned PEX genes.

As a result of impaired peroxisome function, an individual's tissues and cells can accumulate very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA) that are normally degraded in peroxisomes. The accumulation of these lipids can impair the normal function of multiple organ systems, as discussed below. In addition, these individuals can show deficient levels of plasmalogens, ether-phospholipids that are especially important for brain and lung function.

Diagnosis[edit]

In addition to genetic tests involving the sequencing of PEX genes,[9][10] biochemical tests have proven highly effective for the diagnosis of Zellweger syndrome and other peroxisomal disorders. Typically, Zellweger syndrome patients show elevated very long chain fatty acids in their blood plasma. Cultured primarily skin fibroblasts obtained from patients show elevated very long chain fatty acids, impaired very long chain fatty acid beta-oxidation, phytanic acid alpha-oxidation, pristanic acid alpha-oxidation, and plasmalogen biosynthesis.[4]

Prognosis[edit]

Currently, no cure for Zellweger syndrome is known, nor is a course of treatment made standard. Infections should be guarded against to prevent such complications as pneumonia and respiratory distress. Other treatment is symptomatic and supportive. Patients usually do not survive beyond one year of age.[4]

Additional resources for patients and families[edit]

  • European Leukodystrophy Foundation[11]
  • March of Dimes Foundation[12]
  • The Global Foundation for Peroxisomal Disorders[13]
  • United Leukodystrophy Foundation[14]
  • Zellwegers Support Network[15]

References[edit]

  1. ^ Brul, S.; Westerveld, A.; Strijland, A.; Wanders, R.; Schram, A.; Heymans, H.; Schutgens, R.; Van Den Bosch, H.; Tager, J. (June 1988). "Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis". Journal of Clinical Investigation (Free full text) 81 (6): 1710–1715. doi:10.1172/JCI113510. PMC 442615. PMID 2454948.  edit
  2. ^ synd/1670 at Who Named It?
  3. ^ Wiedemann, H. R. (1991). "Hans-Ulrich Zellweger (1909-1990)". European journal of pediatrics 150 (7): 451–451. doi:10.1007/BF01958418. PMID 1915492.  edit
  4. ^ a b c d e f g Steinberg, S.; Dodt, G.; Raymond, G.; Braverman, N.; Moser, A.; Moser, H. (2006). "Peroxisome biogenesis disorders". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1763 (12): 1733. doi:10.1016/j.bbamcr.2006.09.010.  edit
  5. ^ GeneReviews: Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  6. ^ Krause, C.; Rosewich, H.; Thanos, M.; Gärtner, J. (2006). "Identification of novel mutations inPEX2,PEX6,PEX10,PEX12, andPEX13in Zellweger spectrum patients". Human Mutation 27 (11): 1157. doi:10.1002/humu.9462.  edit
  7. ^ a b Raymond, G. V.; Watkins, P.; Steinberg, S.; Powers, J. (2009). "Peroxisomal Disorders". "Handbook of Neurochemistry and Molecular Neurobiology". pp. 631–670. doi:10.1007/978-0-387-30378-9_26. ISBN 978-0-387-30345-1.  edit
  8. ^ Online 'Mendelian Inheritance in Man' (OMIM) Zellweger syndrome; ZS -214100
  9. ^ Steinberg, S.; Chen, L.; Wei, L.; Moser, A.; Moser, H.; Cutting, G.; Braverman, N. (2004). "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum". Molecular Genetics and Metabolism 83 (3): 252–263. doi:10.1016/j.ymgme.2004.08.008. PMID 15542397.  edit
  10. ^ Yik, W. Y.; Steinberg, S. J.; Moser, A. B.; Moser, H. W.; Hacia, J. G. (2009). "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders". Human Mutation 30 (3): E467–E480. doi:10.1002/humu.20932. PMC 2649967. PMID 19105186.  edit
  11. ^ http://www.ela-asso.com/?q=node/&lang=en&force=1
  12. ^ http://www.marchofdimes.org/
  13. ^ http://www.thegfpd.org/
  14. ^ http://www.ulf.org/
  15. ^ http://www.facebook.com/home.php?sk=group_125397297528689

External links[edit]


Original courtesy of Wikipedia: http://en.wikipedia.org/wiki/Zellweger_syndrome — Please support Wikipedia.
This page uses Creative Commons Licensed content from Wikipedia. A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia.
857 videos foundNext > 

Zellweger syndrome

Daniel Denis is 5 1/2 months old with a rare genetic disorder called Zellwger syndrome. The child and his parents (Joe and Abby Denis) will attend a 4-day co...

Zellweger Syndrome

Created with SonicPics for iPhone. http://www.sonicpics.com.

Biochemistry with Doctor Bhadwell - Zellweger's Syndrome

Doctor Bhadwell explains signs and symptoms of Zellweger's Syndrome.

Breath by Breath - The Kenneth Black Story

Lillian Whitted, a 27-year-old Hudson County Corrections Officer from Jersey City, New Jersey, is fighting for her son's life. Little Kenneth was born in the...

Zellweger syndrome discovery

Dr. Richard Rachubinski, along with PhD student Fred Mast and associate professor Andrew Simmonds developed the first multi-cellular model of Zellweger syndr...

Lily

Lily was born on July 30th, 2010 and soon after diagnosed with Zellweger Syndrome. Children with this genetic disorder typically only live a short time. Lily...

MRCPCH: Zellweger syndrome by MrcpchTeam

I have discussed only important points you need to know for MRCPCH examination, hope it will benefit you thank you. SUBSCRIBE NOW: http://bit.ly/161OmbF.

Fitness Book Review: Alphabet Kids - From ADD to Zellweger Syndrome: A Guide to Developmental, Ne...

http://www.FitnessBookMix.com This is the summary of Alphabet Kids - From ADD to Zellweger Syndrome: A Guide to Developmental, Neurobiological and Psychologi...

In Memory Of James (J.W.) Mount

J.W. passed away from a rare disorder called Zellweger Syndrome. You can read about the disorder and his story at www.myspace.com/angeljwmount.

What Is The Definition Of Zellweger syndrome

Visit our website for text version of this Definition and app download. http://www.medicaldictionaryapps.com Subjects: medical terminology, medical dictionar...

857 videos foundNext > 

82 news items

The Daily Telegraph

The Daily Telegraph
Thu, 13 Nov 2014 17:17:21 -0800

Her baby Sally, who had “a thick short neck and low set ears” died from Zellweger syndrome – a rare genetic disorder associated with incest. She told investigators she was routinely raped by her brothers, that her mother Betty encouraged the behaviour ...

NEWS.com.au

NEWS.com.au
Sun, 02 Nov 2014 16:06:21 -0800

The Daily Telegraph reported the Children's Court was told that the sister, given the pseudonym Tammy Colt, 29, gave birth to her baby Sally, who died within two months from a fatal genetic disorder known as Zellweger Syndrome. Sally was born ...
 
HeraldNet
Wed, 15 Oct 2014 00:07:30 -0700

... heartbreaking hardship. Madeline, who was born nearly three months prematurely and is blind and deaf, has a rare genetic condition. She is on the Zellweger spectrum of peroxisome biogenesis disorders, a condition often called Zellweger syndrome.

The Daily Telegraph

The Daily Telegraph
Wed, 11 Jun 2014 07:02:01 -0700

The court was told that the sister, given the pseudonym Tammy Colt, 29, gave birth to her baby Sally, who died within two months from a fatal genetic disorder known as Zellweger Syndrome. Sally was born “extremely dysmorphic” with the thick short neck ...

www.TurlockCityNews.com

www.TurlockCityNews.com
Sun, 03 Aug 2014 14:26:18 -0700

The Alfaros had two sons, Adrian and Diego, that each passed away from complications due to Zellweger Syndrome. Because of the Alfaros' experience with the syndrome, a peroxisomal disorder, the family knew all too well the struggle of taking a special ...

Science News (blog)

Science News (blog)
Tue, 19 Aug 2014 13:15:00 -0700

Laboratory mice are incredibly valuable tools for research into diseases from Alzheimer's to Zellweger syndrome. Scientists have a deep understanding of lab mouse DNA, and can use that knowledge to study how specific genes may control certain behaviors ...

Phys.Org

Phys.Org
Mon, 22 Sep 2014 06:06:38 -0700

The discovery of this "accelerator" of the peroxisomal Ub machinery and – linked to it – the import machinery is relevant not just for understanding peroxisomal disorders such as the Zellweger syndrome. "It turns out that certain central proteins can ...

Yahoo!7 News

Yahoo!7 News
Sun, 29 Jun 2014 20:58:35 -0700

The girl died within two months of being born, suffering from a fatal genetic disease called Zellweger Syndrome, the court heard. No father had been listed on the birth certificate, but Tammy later confessed to counsellors that she had had a three year ...
Loading

Oops, we seem to be having trouble contacting Twitter

Support Wikipedia

A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia. Please add your support for Wikipedia!

Searchlight Group

Digplanet also receives support from Searchlight Group. Visit Searchlight