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

被引：20

作者：

Jansen, GA

Mihalik, SJ

Watkins, PA

Jakobs, C

Moser, HW

Wanders, RJA

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Biochem, NL-1100 DE Amsterdam, Netherlands

[2] Johns Hopkins Univ, Sch Med, Dept Neurol, Kennedy Krieger Res Inst, Baltimore, MD 21205 USA

[3] Johns Hopkins Univ, Sch Med, Dept Pediat, Kennedy Krieger Res Inst, Baltimore, MD 21205 USA

[4] Free Univ Amsterdam Hosp, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

[5] Univ Amsterdam, Acad Med Ctr, Dept Pediat, NL-1100 DE Amsterdam, Netherlands

来源：

CLINICA CHIMICA ACTA | 1998年 / 271卷 / 02期

关键词：

peroxisomes; phytanic acid; fatty acid oxidation; Refsum disease; rhizomelic chondrodysplasia punctata; Zellweger syndrome;

D O I：

10.1016/S0009-8981(97)00259-3

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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. (C) 1998 Elsevier Science B.V.

引用

页码：203 / 211

页数：9

共 20 条

[1] Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata [J].