Disorder of peroxisomal alpha-, beta- and omega-oxidation

MedGen UID:: 1843215
•Concept ID:: C5681040
•: Disease or Syndrome

Orphanet:

ORPHA309810

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDisorder of peroxisomal alpha-, beta- and omega-oxidation

Disorder of peroxisomal alpha-, beta- and omega-oxidation

Recent clinical studies

Etiology

Phytanic acid metabolism in health and disease.

Wanders RJ, Komen J, Ferdinandusse S
Biochim Biophys Acta 2011 Sep;1811(9):498-507. Epub 2011 Jun 13 doi: 10.1016/j.bbalip.2011.06.006. PMID: 21683154

Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans.

Wanders RJ, Komen J, Kemp S
FEBS J 2011 Jan;278(2):182-94. Epub 2010 Dec 13 doi: 10.1111/j.1742-4658.2010.07947.x. PMID: 21156023

Alpha-methylacyl-CoA racemase--an 'obscure' metabolic enzyme takes centre stage.

Lloyd MD, Darley DJ, Wierzbicki AS, Threadgill MD
FEBS J 2008 Mar;275(6):1089-102. Epub 2008 Feb 12 doi: 10.1111/j.1742-4658.2008.06290.x. PMID: 18279392

Peroxisome proliferator-activated receptor (PPAR) in metabolic syndrome and type 2 diabetes mellitus.

Jay MA, Ren J
Curr Diabetes Rev 2007 Feb;3(1):33-9. doi: 10.2174/157339907779802067. PMID: 18220654

Characterization of phytanic acid omega-hydroxylation in human liver microsomes.

Komen JC, Duran M, Wanders RJ
Mol Genet Metab 2005 Jul;85(3):190-5. Epub 2005 Mar 17 doi: 10.1016/j.ymgme.2005.02.005. PMID: 15979030

See all (7)

Diagnosis

Fatty acid oxidation: systems analysis and applications.

Cintolesi A, Rodríguez-Moyá M, Gonzalez R
Wiley Interdiscip Rev Syst Biol Med 2013 Sep-Oct;5(5):575-85. Epub 2013 May 9 doi: 10.1002/wsbm.1226. PMID: 23661533

Re-evaluation of fatty acid metabolism-related gene expression in nonalcoholic fatty liver disease.

Kohjima M, Enjoji M, Higuchi N, Kato M, Kotoh K, Yoshimoto T, Fujino T, Yada M, Yada R, Harada N, Takayanagi R, Nakamuta M
Int J Mol Med 2007 Sep;20(3):351-8. PMID: 17671740

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Therapy

An overview of beta-oxidation disorders.

Moczulski D, Majak I, Mamczur D
Postepy Hig Med Dosw (Online) 2009 Jun 8;63:266-77. PMID: 19535822

Alpha-methylacyl-CoA racemase--an 'obscure' metabolic enzyme takes centre stage.

Lloyd MD, Darley DJ, Wierzbicki AS, Threadgill MD
FEBS J 2008 Mar;275(6):1089-102. Epub 2008 Feb 12 doi: 10.1111/j.1742-4658.2008.06290.x. PMID: 18279392

Peroxisome proliferator-activated receptor (PPAR) in metabolic syndrome and type 2 diabetes mellitus.

Jay MA, Ren J
Curr Diabetes Rev 2007 Feb;3(1):33-9. doi: 10.2174/157339907779802067. PMID: 18220654

See all (3)