Peroxisomal disorder

Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1).{{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| doi-access = }}{{cite journal |vauthors=Steinberg SJ, Raymond GV, Braverman NE, et al |veditors=Adam MP, Ardinger HH, Pagon RA, et al |title=Zellweger Spectrum Disorder |journal=GeneReviews® [Internet] |publisher=University of Washington |id=NBK1448 |pmid=20301621 |date=2020 |url=https://www.ncbi.nlm.nih.gov/books/NBK1448/}} 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.

PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes.{{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}}{{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}} 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.{{cn|date=September 2021}}

RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor.{{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| s2cid = 33855310 }} RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid, and show reduced levels of plasmalogens.

Peroxisomal disorders also include:

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{{Medical resources

| DiseasesDB =

| ICD10 = {{ICD10|E|80|3|e|70}}

| ICD9 = {{ICD9|277.86}}

| ICDO =

| OMIM =

| MedlinePlus =

| eMedicineSubj = neuro

| eMedicineTopic = 309

| MeshID = D018901

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• {{cite journal |vauthors=Steinberg SJ, Raymond GV, Braverman NE, et al |veditors=Adam MP, Ardinger HH, Pagon RA, et al |title=Zellweger Spectrum Disorder |journal=GeneReviews® [Internet] |publisher=University of Washington |id=NBK1448 |pmid=20301621 |date=2020 |url=https://www.ncbi.nlm.nih.gov/books/NBK1448/}}

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• {{MeshName|Peroxisomal+disorders}}

{{Peroxisomal disorders}}

Category:Peroxisomal disorders

Category:Organelles