| 词条 | Peroxisomal disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 释义 |
| name = Peroxisomal disorder | image = Peroxisome.jpg | caption = Basic structure of a peroxisome | pronounce = | field = Medical genetics | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions.[1] This may be due to defects in single enzymes[2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.[3] Peroxisome biogenesis disordersPeroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1).[4][5] PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.[4][5] PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes.[6][7] This results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid. In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function. RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor.[8] RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid, and show reduced levels of plasmalogens.
Enzyme and transporter defectsPeroxisomal disorders also include:
References1. ^{{Cite journal | last1 = Wanders | first1 = R. J. A. | last2 = Waterham | first2 = H. R. | title = Biochemistry of Mammalian Peroxisomes Revisited | journal = Annual Review of Biochemistry | volume = 75 | pages = 295–332 | year = 2006 | doi = 10.1146/annurev.biochem.74.082803.133329| pmid=16756494}} 2. ^{{Cite journal | last1 = Wanders | first1 = R. | last2 = Waterham | first2 = H. | title = Peroxisomal disorders: the single peroxisomal enzyme deficiencies | journal = Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | volume = 1763 | pages = 1707–20 | year = 2006 | doi = 10.1016/j.bbamcr.2006.08.010 | pmid=17055078}} 3. ^{{Cite journal | last1 = Weller | first1 = S. | last2 = Gould | first2 = S. J. | last3 = Valle | first3 = D. | title = Peroxisome Biogenesis Disorders | journal = Annual Review of Genomics and Human Genetics | volume = 4 | pages = 165–211 | year = 2003 | pmid = 14527301 | doi = 10.1146/annurev.genom.4.070802.110424}} 4. ^1 {{Cite journal | last1 = Steinberg | first1 = S. | last2 = Dodt | first2 = G. | last3 = Raymond | first3 = G. | last4 = Braverman | first4 = N. | last5 = Moser | first5 = A. | last6 = Moser | first6 = H. | title = Peroxisome biogenesis disorders | journal = Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | volume = 1763 | issue = 12 | pages = 1733–48 | year = 2006 | doi = 10.1016/j.bbamcr.2006.09.010 | pmid=17055079}} 5. ^1 {{Cite journal | last1 = Steinberg | first1 = S. | last2 = Raymond | first2 = G. | last3 = Braverman | first3 = N. | last4 = Moser | first4 = A. | last5 = Pagon | first5 = H. | last6 = Adam | first6 = R. | last7 = Bird | first7 = T. | last8 = Dolan | first8 = C. | last9 = Fong | first9 = K. | last10 = Stephens | first10 = K. | title = Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum | year = 1993 | pmid = 20301621}} 6. ^{{Cite journal | last1 = Steinberg | first1 = S. | last2 = Chen | first2 = L. | last3 = Wei | first3 = L. | last4 = Moser | first4 = A. | last5 = Moser | first5 = H. | last6 = Cutting | first6 = G. | last7 = Braverman | first7 = N. | title = The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum | journal = Molecular Genetics and Metabolism | volume = 83 | pages = 252–263 | year = 2004 | doi = 10.1016/j.ymgme.2004.08.008 | pmid=15542397 | issue=3}} 7. ^{{Cite journal | last1 = Yik | first1 = W. Y. | last2 = Steinberg | first2 = S. J. | last3 = Moser | first3 = A. B. | last4 = Moser | first4 = H. W. | last5 = Hacia | first5 = J. G. | title = Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders | journal = Human Mutation | volume = 30 | issue = 3 | pages = E467–E480 | year = 2009 | doi = 10.1002/humu.20932 | pmc = 2649967 | pmid=19105186}} 8. ^{{Cite journal | last1 = Braverman | first1 = N. | last2 = Steel | first2 = G. | last3 = Obie | first3 = C. | last4 = Moser | first4 = A. | last5 = Moser | first5 = H. | last6 = Gould | first6 = S. J. | last7 = Valle | first7 = D. | title = Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata | journal = Nature Genetics | volume = 15 | pages = 369–376 | year = 1997 | pmid = 9090381 | doi = 10.1038/ng0497-369 | issue=4}} 9. ^{{cite book|author=World Health Organization|title=Application of the international classification of diseases to neurology: ICD-NA.|url=https://books.google.com/books?id=85RxDqXrx2EC&pg=PA119|accessdate=23 November 2010|date=7 December 1997|publisher=World Health Organization|isbn=978-92-4-154502-0|pages=119–}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|E|80|3|e|70}} | ICD9 = {{ICD9|277.86}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = neuro | eMedicineTopic = 309 | MeshID = D018901 }}
2 : Peroxisomal disorders|Organelles |
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