TANDEM MASS-SPECTROMETRY - A NEW METHOD FOR ACYLCARNITINE PROFILING WITH POTENTIAL FOR NEONATAL SCREENING FOR INBORN-ERRORS OF METABOLISM

被引：434

作者：

MILLINGTON, DS

KODO, N

NORWOOD, DL

ROE, CR

机构：

[1] Division of Pediatric Genetics and Metabolism, Duke University Medical Center, Durham, 27710, NC

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 03期

关键词：

D O I：

10.1007/BF01799385

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A method for analysis of acylcarnitines in blood at physiological concentrations has been developed. Preliminary results from umbilical cord blood and neonatal blood spotted onto Guthrie cards are encouraging. This method will detect up to at least eight inherited metabolic disorders which exhibit diagnostic acylcarnitine profiles, including medium-chain acyl-CoA dehydrogenase deficiency. The speed and simplicity of the method permit automation with existing technology, and could enable routine neonatal screening to be carried out in an efficient and cost-effective manner. © 1990 SSIEM and Kluwer Academic Publishers.

引用

页码：321 / 324

页数：4