title: Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders.
abstract: Phytanoyl-Coenzyme A hydroxylase is a newly recognized peroxisomal enzyme which catalyses the first step in the alpha-oxidation of phytanoyl-Coenzyme A. Since measurement of this enzyme activity in human liver homogenate is of great importance especially in relation to inherited diseases in which this enzyme activity is deficient, we have studied its characteristics in human liver. The results described in this paper show that optimal activity measurements require preformed phytanoyl-Coenzyme A plus 2-oxoglutarate, Fe2+ and ascorbate. The conditions developed can be used to determine phytanoyl-Coenzyme A hydroxylase activity in human liver homogenates which is of utmost importance not only for the diagnosis of patients, but also for the purification of the enzyme from various sources.
authors.affiliation: Academic Medical Center, University of Amsterdam, Department of Clinical Biochemistry, The Netherlands.
authors.forename: G A
authors.initials: GA
authors.lastname: Jansen
authors.forename: S J
authors.initials: SJ
authors.lastname: Mihalik
authors.forename: P A
authors.initials: PA
authors.lastname: Watkins
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: H W
authors.initials: HW
authors.lastname: Moser
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D004791:Enzyme Inhibitors / Q000494:pharmacology; D006801:Humans; D007093:Imidazoles / Q000494:pharmacology; D008099:Liver / Q000201:enzymology*; D006899:Mixed Function Oxygenases / Q000037:antagonists & inhibitors / Q000378:metabolism*; D018901:Peroxisomal Disorders / Q000201:enzymology*; D010831:Phytanic Acid / Q000378:metabolism; D011435:Propyl Gallate / Q000494:pharmacology
chemical_list: D004791:Enzyme Inhibitors; D007093:Imidazoles; D010831:Phytanic Acid; D011435:Propyl Gallate; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human