DIAGNOSIS OF MEDIUM CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY BY MEASUREMENT OF CIS-4-DECENOIC ACID IN DRIED BLOOD SPOTS

被引：14

作者：

HEALES, SJR ^{[1
]}

LEONARD, JV ^{[1
]}

机构：

[1] INST CHILD HLTH,MED UNIT,LONDON WC1N 1EH,ENGLAND

来源：

CLINICA CHIMICA ACTA | 1992年 / 209卷 / 1-2期

关键词：

MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; CIS-4-DECENOIC ACID; GAS-CHROMATOGRAPHY MASS-SPECTROMETRY; BLOOD SPOTS;

D O I：

10.1016/0009-8981(92)90333-L

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：

Using gas chromatography-mass spectrometry (GC-MS), with selected ion monitoring, a method for measurement of cis-4-decenoate in dried blood spots was developed. Using this assay, the concentration of cis-4-decenoate was determined in blood spots taken from a control population, seven children with medium chain acyl CoA dehydrogenase (MCAD) deficiency who were well at the time of sample collection and an asymptomatic sibling of a child with MCAD deficiency. cis-4-Decenoate was elevated, above the control range, in all the children with MCAD deficiency and in the previously undiagnosed sibling. It is concluded that measurement of cis-4-decenoate in dried blood spots provides a reliable and sensitive test for MCAD deficiency, that could be used in screening programmes.

引用

页码：61 / 66

页数：6

共 10 条

[1] FREQUENCY OF THE G985 MCAD MUTATION IN THE GENERAL-POPULATION [J].