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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.
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90 news items

Reporter-Times

Reporter-Times
Sat, 24 Jan 2015 21:03:45 -0800

MARTINSVILLE — Levi Mayhew and his family, Justin and Rebecca Drake, decided to give the wish they received from Make-A-Wish Foundation to 10-year-old Emma Broyer because Levi, who has Zellweger Syndrome, was too sick to travel. The wish was a ...
 
Oxford Mail
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 ...

Pendle Today

Pendle Today
Mon, 19 Jan 2015 04:00:00 -0800

His choice of Derian House comes 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 Syndrome. The Chorley hospice ...

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 ...
 
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.
 
Huffington Post UK
Tue, 02 Dec 2014 09:31:10 -0800

Google-backed 23andMe claims the test results could be relied upon to make lifestyle and health changes - most without consulting a doctor. For £125, the test screens your genes using a saliva sample taken at home. The test is on sale in the UK from ...
 
WHNS Greenville
Fri, 10 Oct 2014 05:33:30 -0700

It took years for the two boys to be diagnosed, John Hopkins diagnosed them with zellweger syndrome. Please read up on it as it is hereditary. Many prayer to this sweet family and Babyboy. Also post on Facebook. Warning: this comments plugin is ...

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 ...
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