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Xu, R. Peroxisomal Acyl-CoA Oxidase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/5280 (accessed on 21 September 2026).
Xu R. Peroxisomal Acyl-CoA Oxidase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/5280. Accessed September 21, 2026.
Xu, Rita. "Peroxisomal Acyl-CoA Oxidase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/5280 (accessed September 21, 2026).
Xu, R. (2020, December 24). Peroxisomal Acyl-CoA Oxidase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/5280
Xu, Rita. "Peroxisomal Acyl-CoA Oxidase Deficiency." Encyclopedia. Web. 24 December, 2020.
Peroxisomal Acyl-CoA Oxidase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/peroxisomal-acyl-coa-oxidase-deficiency

Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy.

genetic conditions

References

  1. Aubourg P, Wanders R. Peroxisomal disorders. Handb Clin Neurol.2013;113:1593-609. doi: 10.1016/B978-0-444-59565-2.00028-9. Review.
  2. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M,Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C,Santorelli FM, Dionisi-Vici C, Bonioli E. Peroxisomal acyl-CoA-oxidasedeficiency: two new cases. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi:10.1002/ajmg.a.32298.
  3. Clayton PT. Clinical consequences of defects in peroxisomal beta-oxidation.Biochem Soc Trans. 2001 May;29(Pt 2):298-305. Review.
  4. El Hajj HI, Vluggens A, Andreoletti P, Ragot K, Mandard S, Kersten S, WaterhamHR, Lizard G, Wanders RJ, Reddy JK, Cherkaoui-Malki M. The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy).Endocrinology. 2012 Jun;153(6):2568-75. doi: 10.1210/en.2012-1137.
  5. Ferdinandusse S, Barker S, Lachlan K, Duran M, Waterham HR, Wanders RJ,Hammans S. Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellarand brainstem atrophy. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255.
  6. Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L,Moser AB, Wanders RJ, Waterham HR. Clinical, biochemical, and mutational spectrumof peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat. 2007Sep;28(9):904-12.
  7. Kurian MA, Ryan S, Besley GT, Wanders RJ, King MD. Straight-chain acyl-CoAoxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-typeregression and a selective pattern of leukodystrophy. J Inherit Metab Dis.2004;27(1):105-8.
  8. Su HM, Moser AB, Moser HW, Watkins PA. Peroxisomal straight-chain Acyl-CoAoxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis. J Biol Chem. 2001 Oct 12;276(41):38115-20.
  9. Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y,Shimozawa N, Kondo N. Peroxisomal acyl CoA oxidase deficiency. J Pediatr. 2002Jan;140(1):128-30.
  10. Wanders RJ, Klouwer FC, Ferdinandusse S, Waterham HR, Poll-Thé BT. Clinicaland Laboratory Diagnosis of Peroxisomal Disorders. Methods Mol Biol.2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 909
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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