Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts

被引：82

作者：

Wanders, RJA ^{[1
]}

Denis, S ^{[1
]}

Ruiter, JPN ^{[1
]}

Schutgens, RBH ^{[1
]}

VanRoermund, CWT ^{[1
]}

Jacobs, BS ^{[1
]}

机构：

[1] UNIV HOSP AMSTERDAM,DEPT CLIN CHEM,LAB PEDIAT CLIN BIOCHEM,SECT CLIN ENZYMOL,1100 DE AMSTERDAM,NETHERLANDS

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1995年 / 18卷

关键词：

D O I：

10.1007/BF00711434

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

One of the main functions of mammalian peroxisomes is the beta-oxidation of a variety of fatty acids and fatty acid derivatives, including very long-chain fatty acids. Oxidation of these fatty acids is deficient in a number of different peroxisomal disorders, including the disorders of peroxisome biogenesis (Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease), X-linked adrenoleukodystrophy and a number of other disorders of peroxisomal beta-oxidation of known and unknown aetiology. Accurate measurement of peroxisomal fatty acid oxidation is of utmost importance for correct postnatal and prenatal diagnosis of these disorders. In this paper we describe a straightforward and accurate assay method to measure the beta-oxidation of palmitic acid (C-16:0), hexacosanoic acid (C-26:0) and pristanic acid in intact fibroblasts.

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页码：113 / 124

页数：12

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