ELECTROSPRAY TANDEM MASS-SPECTROMETRY IN THE DIAGNOSIS OF ORGANIC ACIDEMIAS

被引：50

作者：

RASHED, MS ^{[1
]}

OZAND, PT ^{[1
]}

HARRISON, ME ^{[1
]}

WATKINS, PJF ^{[1
]}

EVANS, S ^{[1
]}

机构：

[1] FINNIGAN MAT LTD, HEMEL HEMPSTEAD, ENGLAND

来源：

RAPID COMMUNICATIONS IN MASS SPECTROMETRY | 1994年 / 8卷 / 01期

关键词：

D O I：

10.1002/rcm.1290080124

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

A novel procedure based on electrospray tandem mass spectrometry (ESI-MS/MS) has been used in the diagnosis of organic acidemias. The method is based on the determination of acylcarnitine profiles from blood spots collected on Guthrie cards. The acylcarnitines are extracted with methanol, derivatized to their butyl esters and analyzed by ESI-MS/MS. Precursor-ion scanning of the common fragment at m/z 85 of the butyl esters yields highly diagnostic acylcarnitine profiles. Analysis time is one minute per sample and is fully automated. Examples are given of normal profiles, of profiles from two patients with fatty acid oxidation defects, and of a case of propionic acidemia. The technique is simple, rapid and specific, and shows potential for routine application in neonatal screening of organic acidemias.

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页码：129 / 133

页数：5

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