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.
819 videos foundNext > 

Zellweger Syndrome

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

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...

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.

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...

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...

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...

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...

Taylor University Chapel - 03-26-12 - Nancy Guthrie

In a message titled "When God Says No," Nancy Guthrie retells the story of her daughter's life with Zellweger Syndrome and offers a message of hope in the mi...

Enfermedad de Pompe, Sindrome de Zellweger, Sindrome de Leigh Cancion

Canciones acerca de las enfermedades y síndromes. Enfermedad de Pompe (Pompe Disease); Sindrome de Zellweger (Zellweger Syndrome); Sindrome de Leigh (Leigh S...

819 videos foundNext > 

85 news items

AARP News

AARP News
Mon, 23 Feb 2015 15:14:57 -0800

Currently, more than 200 medical conditions are on the Compassionate Allowances list, ranging from "A" — Acute Leukemia — to "Z" — Zellweger Syndrome. The program permits Social Security to speed disability benefits to obviously disabled applicants ...
 
Pendle Today
Thu, 05 Feb 2015 07:21:57 -0800

... pupil, to raise funds for Derian House. He chose the charity after his mum's best friend and former contestant on BBC's The Voice Kiki De Ville lost her four-week-old son Dexter when he was diagnosed with the rare congenital disorder Zellweger ...

Huffington Post

Huffington Post
Thu, 29 Jan 2015 13:13:18 -0800

Indiana 6-year-old Levi Mayhew suffers from a rare and fatal genetic disorder on the Zellweger spectrum. According to a spokesperson from the Make-A-Wish Foundation, Levi is too sick to travel, so when he became eligible for his wish, he did something ...
 
HeraldNet
Wed, 15 Oct 2014 00:10:48 -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.

Retford Times

Retford Times
Fri, 30 Jan 2015 22:56:15 -0800

Ms Williamson recorded a narrative verdict into Lexie's death and said she died as a result of liver failure and infantile refsum's disease – a condition closely linked to Zellweger Syndrome. She criticised Sheffield Children's Hospital for failing to ...

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 ...

The Oxford Times

The Oxford Times
Wed, 21 Jan 2015 01:56:15 -0800

Four-year-old Khian died on January 19, 2012 after being born at the John Radcliffe Hospital, with the rare condition Zellweger syndrome. The disease, thought to affect one in 50,000, means the body doesn't develop properly and in Khian's case led to ...

The Star

The Star
Mon, 26 Jan 2015 22:43:46 -0800

Ms Williamson said Lexie died as a result of liver failure and infantile Refsum's disease – a condition linked to Zellweger Syndrome. She criticised Sheffield Children's Hospital for failing to tell Lexie's grandparents that the toddler had only months ...
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