Análisis cuantitativo de hexosa-monofosfatos en muestras biológicas

摘要

The invention is for a method of quantitatively analysing the hexose monophosphate (HMP) composition of a biological sample, preferably a dried blood sample, using tandem mass spectrometry and for a method for quantitatively analysing the abundance of amino acids acylcarnitines and HMP from the same biological sample (such as a dried blood spot sample). The method is useful in screening infants for galactosemia and can be integrated with a method of screening for disorders in the metabolism of amino acids, organic acids and fatty acids.