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Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
Author(s) -
Millington D. S.,
Kodo N.,
Norwood D. L.,
Roe C. R.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799385
Subject(s) - newborn screening , umbilical cord , tandem mass spectrometry , biotinidase deficiency , inborn error of metabolism , cord blood , medicine , intermediary metabolism , metabolism , mass spectrometry , bioinformatics , computational biology , chemistry , chromatography , endocrinology , biology , pediatrics , immunology
Conclusion 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.