digplanet beta 1: Athena
Share digplanet:


Applied sciences






















Zellweger syndrome
Classification and external resources
Specialty medical genetics
ICD-10 Q87.8
ICD-9-CM 277.86, 759.8
OMIM 214100
DiseasesDB 14248
MeSH D015211
Orphanet 912

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]


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, or 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 above. In addition, these individuals can show deficient levels of plasmalogens, ether-phospholipids that are especially important for brain and lung function.


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]


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]


  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. 
  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. 
  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): 1733–48. doi:10.1016/j.bbamcr.2006.09.010. PMID 17055079. 
  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. PMID 17041890. 
  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. 
  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. 
  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. 
  11. ^ "La collecte Delipapier pour ELA se poursuit - Association ELA". www.ela-asso.com. Retrieved 2016-02-29. 
  12. ^ "Home - March of Dimes - A Fighting Chance For Every Baby". www.marchofdimes.org. Retrieved 2016-02-29. 
  13. ^ "The Global Foundation for Peroxisomal Disorders". Retrieved 2016-02-29. 
  14. ^ "United Leukodystrophy Foundation". www.ulf.org. Retrieved 2016-02-29. 
  15. ^ "Zellweger's Support Network (requires login)". Facebook. Retrieved 2016-02-29. 

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.

222 news items


Sun, 10 Apr 2016 15:27:16 -0700

Riley Brown was born with the rare congenital disorder Zellweger syndrome and when he was born, doctors warned his Alexandra parents Ashleigh and Peter Brown, their baby could die any day. Their "little fighter" however, beat his life expectancy odds ...


Tue, 02 Feb 2016 15:34:29 -0800

Riley Brown turned one on Monday, and his family and friends celebrated the milestone on Saturday with a birthday bash. Doctors told Alexandra couple Ashleigh and Peter Brown their son, who was born with the rare congenital disorder Zellweger syndrome ...


Mon, 11 Apr 2016 16:05:21 -0700

Hundreds of mourners gathered at the Cellar Door in Alexandra to remember 14-month-old Riley who passed away on Thursday. At six weeks old he was diagnosed with Zellweger Syndrome, a rare congenital disorder, and doctors told his parents Ashleigh ...


Thu, 07 Apr 2016 20:31:38 -0700

A "little fighter" has lost his battle with the rare congenital disorder Zellweger syndrome. Riley Brown, 14 months, of Alexandra in Central Otago, passed away "suddenly, but peacefully" with his family on Thursday, a death notice says. When Riley was ...

Yahoo Health

Yahoo Health
Tue, 05 Apr 2016 18:26:13 -0700

As someone who was raised by her biological parents, both of whom have a pretty clear idea of their respective lineages, I've never been able to really justify being intrigued by mail-order DNA tests that tell you "where you come from." Do I need ...

Otago Daily Times

Otago Daily Times
Fri, 08 Apr 2016 10:48:07 -0700

At six weeks old, he was diagnosed with Zellweger Syndrome, a rare genetic condition that affects only one in every 50,000 or 100,000 babies. There is no treatment or cure and babies with the condition rarely survive beyond the first year. Riley ...


Sat, 26 Dec 2015 15:24:26 -0800

Dubai: In March this year, Gulf News carried a report on Khalid Hawasli and his wife Ji Seng Li, who were looking to raise funds to afford treatment for their two sons, Reslan, 7, and Ryan, 2, both diagnosed with Zellweger syndrome. Zellweger syndrome ...

Gloucestershire Echo

Gloucestershire Echo
Wed, 13 Apr 2016 09:08:31 -0700

They knew he was poorly but earlier this year they discovered he has a rare genetic disorder called Zellweger syndrome. It is a metabolic disorder, which affects every cell in his body. It affects just one in 50,000 babies and means Ezra has to be fed ...

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