Open AccessQuantification of Galactose-1-Phosphate Uridyltransferase Enzyme Activity by Liquid Chromatography–Tandem Mass Spectrometry
Author(s) -
Yijun Li,
Adam S. Ptolemy,
Lauren Harmonay,
Mark D. Kellogg,
Gerard T. Berry
Publication year - 2010
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2009.140459
Subject(s) - chemistry , galactosemia , chromatography , mass spectrometry , tandem mass spectrometry , enzyme assay , liquid chromatography–mass spectrometry , enzyme , galactose , substrate (aquarium) , uridine diphosphate , biochemistry , biology , ecology
The diagnosis of galactosemia usually involves the measurement of galactose-1-phosphate uridyltransferase (GALT) activity. Traditional radioactive and fluorescent GALT assays are nonspecific, laborious, and/or lack sufficient analytical sensitivity. We developed a liquid chromatography-tandem mass spectrometry (LC-MS/MS)-based assay for GALT enzyme activity measurement.
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