Abstract
Galactosemia, caused by enzyme deficiencies of galactose metabolism, leads to the accumulation of galactose (Gal)1 and galactose 1-phosphate (Gal 1-P) in blood. The disease is classified into 3 types. The concentrations of Gal and Gal 1-P in galactose 1-phosphate uridyltransferase (GALT) or galactokinase (GALK) deficiency are quite different (1). Therefore, simultaneous monitoring of Gal and Gal 1-P in blood is useful to distinguish infants with GALT deficiency (type I) from those with GALK deficiency (type II). Of the various methods for determining Gal or Gal 1-P in blood spots, none are suitable for simultaneous and direct measurement because of the requirements of special reagents or multistep and time-consuming procedures (2)(3). We developed a novel method based on high-performance anion-exchange chromatography (HPAEC)–pulsed amperometric detection (PAD) that simultaneously measures Gal and Gal 1-P concentrations in patient blood spots. We prepared blood spot standards using healthy male adult blood and stock solutions of Gal and Gal 1-P. We collected blood spot specimens (70 controls and 12 patients) from Korean newborns within 3 days after birth. All of the samples were identified by quantifying Gal concentrations using the enzymatic colorimetric method (ECM) (3). Two 3.2 mm–diameter filter paper …
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call