Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders

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• 作者：Jansen ; Gerbert A. ; Mihalik ; Stephanie J. ; Watkins ; Paul A. ; Jakobs ; Cornelis ; Moser ; Hugo W. ; et. al.
• 关键词：Peroxisomes ; Phytanic acid ; Fatty acid oxidation ; Refsum disease ; Rhizomelic chondrodysplasia punctata ; Zellweger syndrome
• 刊名：Clinica Chimica Acta
• 出版年：1998
• 期刊代码：54_00098981
• 类别：med
• 出版时间：March 23, 1998
• 卷：271
• 期：2
• 页码：203-211
• 文件大小：118 K

摘要

Phytanoyl-Coenzyme A hydroxylase is a newly recognized peroxisomal enzyme which catalyses the first step in the α-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.