Peroxisomal disorder
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| Peroxisomal disorder | |
|---|---|
| Classification and external resources | |
 Basic structure of a peroxisome |
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| ICD-9 | 277.86 |
| eMedicine | neuro/309 |
| MeSH | D018901 |
Peroxisomal disorders are a class of conditions which lead to disorders of lipid metabolism.
Contents |
[edit] Zellweger spectrum
A deficiency in the protein import can lead to empty peroxisomes, leading to abnormalities in the brain, called Zellweger syndrome. A deficiency in the peroxin Pex2 has shown to be responsible for one form of the syndrome. A milder inherited disease is caused by a defective receptor for the N-terminal import signal. Deficiency of the formation of plasmalogens can also cause severe brain disorders, leading to neurological disease.
Several other closely related conditions are considered part of the "Zellweger spectrum".[1][2] They are often associated with PEX1, PEX6, PEX10, PEX12, or PEX26.[3]
These conditions include:
[edit] Other peroxisomal disorders
Other examples of peroxisomal disorders include:
[edit] References
- ^ Crane DI, Maxwell MA, Paton BC (September 2005). "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders". Hum. Mutat. 26 (3): 167–75. doi:. PMID 16086329. http://dx.doi.org/10.1002/humu.20211.
- ^ Krause C, Rosewich H, Gärtner J (January 2009). "Rational diagnostic strategy for Zellweger syndrome spectrum patients". Eur. J. Hum. Genet.. doi:. PMID 19142205. http://dx.doi.org/10.1038/ejhg.2008.252.
- ^ Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG (March 2009). "Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders". Hum. Mutat. 30 (3): E467–80. doi:. PMID 19105186. PMC 2649967. http://dx.doi.org/10.1002/humu.20932.
[edit] External links
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