DETERMINATION OF MEDIUM CHAIN ACYL-COA DEHYDROGENASE-ACTIVITY IN CULTURED SKIN FIBROBLASTS USING MASS-SPECTROMETRY

被引：10

作者：

NIEZENKONING, KE

CHAPMAN, TE

MULDER, IE

SMITH, GPA

REIJNGOUD, DJ

BERGER, R

机构：

[1] SHRINERS BURN INST,BOSTON,MA

[2] UNIV HOSP GRONINGEN,DEPT PEDIAT,GRONINGEN,NETHERLANDS

[3] WILHELMINA CHILDRENS HOSP,UTRECHT,NETHERLANDS

来源：

CLINICA CHIMICA ACTA | 1991年 / 199卷 / 02期

关键词：

INBORN ERROR; MCAD; SKIN FIBROBLASTS; GC MS; MITOCHONDRIAL BETA-OXIDATION;

D O I：

10.1016/0009-8981(91)90109-P

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：

Medium chain acyl-CoA dehydrogenase deficiency, a defect of mitochondrial beta-oxidation, is one of the most frequently occurring among inborn errors of metabolism. We describe a rapid and sensitive gas chromatographic/mass spectrometric method allowing reliable assessment of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts. We investigated MCAD activity in three presumed medium chain acyl-CoA dehydrogenase deficient (MCADD) patients and 10 control subjects. The medium chain acyl-CoA dehydrogenase activity determined in three patients was 1.0 +/- 0.4 nmol . min-1 . mg-1 protein (mean +/- SD; range: 0.6-1.4) and in controls it was 2.8 +/- 1.0 nmol . min-1 . mg-1 protein (mean +/- SD; range: 1.6-4.4).

引用

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页码：173 / 184

页数：12

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