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

Gerbert A. Jansen; Stephanie J. Mihalik; Paul A. Watkins; Cornelis Jakobs; Hugo W. Moser; Ronald J.A. Wanders

doi:10.1016/S0009-8981(97)00259-3

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

Gerbert A. Jansen, Stephanie J. Mihalik, Paul A. Watkins, Cornelis Jakobs, Hugo W. Moser, Ronald J.A. Wanders

Kennedy Krieger Institute

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	203-211
Number of pages	9
Journal	Clinica Chimica Acta
Volume	271
Issue number	2
DOIs	https://doi.org/10.1016/S0009-8981(97)00259-3
State	Published - Mar 23 1998

Keywords

Fatty acid oxidation
Peroxisomes
Phytanic acid
Refsum disease
Rhizomelic chondrodysplasia punctata
Zellweger syndrome

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Biochemistry, medical

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10.1016/S0009-8981(97)00259-3

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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 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.",

keywords = "Fatty acid oxidation, Peroxisomes, Phytanic acid, Refsum disease, Rhizomelic chondrodysplasia punctata, Zellweger syndrome",

author = "Jansen, {Gerbert A.} and Mihalik, {Stephanie J.} and Watkins, {Paul A.} and Cornelis Jakobs and Moser, {Hugo W.} and Wanders, {Ronald J.A.}",

note = "Funding Information: This work was financially supported by grants of the Netherlands Organization for Scientific Research (NWO, project no 901-03-133), The Princess Beatrix Fund (project no 94-1119), and NIH grant DK51149. ",

year = "1998",

month = mar,

day = "23",

doi = "10.1016/S0009-8981(97)00259-3",

language = "English (US)",

volume = "271",

pages = "203--211",

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T1 - Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders

AU - Jansen, Gerbert A.

AU - Mihalik, Stephanie J.

AU - Watkins, Paul A.

AU - Jakobs, Cornelis

AU - Moser, Hugo W.

AU - Wanders, Ronald J.A.

N1 - Funding Information: This work was financially supported by grants of the Netherlands Organization for Scientific Research (NWO, project no 901-03-133), The Princess Beatrix Fund (project no 94-1119), and NIH grant DK51149.

PY - 1998/3/23

Y1 - 1998/3/23

N2 - 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.

AB - 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.

KW - Fatty acid oxidation

KW - Peroxisomes

KW - Phytanic acid

KW - Refsum disease

KW - Rhizomelic chondrodysplasia punctata

KW - Zellweger syndrome

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JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

IS - 2

ER -

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

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Keywords

ASJC Scopus subject areas

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