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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]

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, 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.

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. 
  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. ^ 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. ^ https://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.

905 news items

Stuff.co.nz

Stuff.co.nz
Tue, 02 Feb 2016 16:01:32 -0800

Peter and Ashleigh Brown with their 1-year-old son Riley, who suffers from the rare congenital disorder Zellweger syndrome. A "little fighter" has beaten his life expectancy odds and reached his first birthday. Riley Brown turned one on Monday, and his ...

Mic

Mic
Fri, 12 Feb 2016 14:36:17 -0800

One day in late November, I stood in the bathroom of my workplace, continuously depositing my saliva into a slim, plastic tube while my boss cheered me on. No, I wasn't on set at some sort of weird snuff film: I was the resident guinea pig for 23andMe ...

gulfnews.com

gulfnews.com
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 ...

The National

The National
Tue, 10 Mar 2015 08:53:52 -0700

In fact, fatty foods can accelerate the symptoms of Zellweger syndrome because the body struggles to process fat. Mr Hawasli found out his older son's true medical condition only after the birth of his second son. When Ryan began showing similar ...

KING5.com

KING5.com
Tue, 29 Dec 2015 20:41:16 -0800

She hurts from the genetic disorder, Zellweger syndrome and there's only so much medication can do. Even comforting from her mom, Meagan can't make it all better. But, there is help, tender touches from Liz Artola. After Artola arrives and goes to work ...

Alexandria Echo Press

Alexandria Echo Press
Fri, 25 Sep 2015 03:08:22 -0700

Finally, they had the diagnosis: Zellweger syndrome. “At first I was like, 'OK, we can deal with that. I don't know what it is, but I can deal with it,'” Meghan said. “Then [the doctor said], 'It's a terminal disease, so she probably won't live past ...

MedPage Today

MedPage Today
Wed, 28 Oct 2015 15:42:50 -0700

Medical conditions covered in the 23andMe panel range from ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) to Zellweger syndrome spectrum. It also includes information on ethnic ancestry and 25 traits such as lactose intolerance, ...

Tech Insider (blog)

Tech Insider (blog)
Tue, 20 Oct 2015 22:35:34 -0700

Personal genomics company 23andMe has officially resumed a service that tells curious customers what lurks in their DNA, including some inheritable diseases. The move comes nearly two years after the US Food and Drug Administration (FDA) sent ...
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