CHAPTER 14: Phytanoyl-CoA Hydroxylase: A 2-Oxoglutarate-Dependent Dioxygenase Crucial for Fatty Acid Alpha-Oxidation in Humans
Published:23 Apr 2015
R. J. A. Wanders, S. Ferdinandusse, M. S. Ebberink, and H. R. Waterham, in 2-Oxoglutarate-Dependent Oxygenases, ed. C. Schofield and R. Hausinger, The Royal Society of Chemistry, 2015, pp. 338-349.
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Phytanoyl-CoA hydroxylase belongs to the family of 2-oxoglutarate-dependent dioxygenases and plays a crucial role in the α-oxidation of fatty acids. The complete α-oxidation pathway involves five different enzymes localized in peroxisomes. Thus far, phytanoyl-CoA hydroxylase deficiency has remained the only genetically determined inborn error of metabolism affecting the α-oxidation pathway. In this chapter we describe the current state of knowledge on fatty acid α-oxidation with special emphasis on phytanoyl-CoA hydroxylase and its deficiency in Refsum disease.