THE INVESTIGATION OF UDPGLUCOSE AND UDPGALACTOSE CONCENTRATION IN RED-BLOOD-CELLS OF PATIENTS WITH CLASSICAL GALACTOSEMIA

UDPGlucose (UDPGlc) and UDPGalactose (UDPGal) are nucleotide sugars fo rmed via the galactose metabolic pathway and are essential cofactors f or the incorporation of galactose and glucose into complex glycoprotei ns and glycolipids. It has been proposed that in classical galactosaem ia, where the enzyme galactose-1-phosphate uridyl transferase is defic ient, the reaction product UDPGal is reduced leading to the long-term complications associated with the disease. We have measured the concen tration of UDPGal and UDPGlc in red blood cells by high performance li quid chromatography (HPLC) in 16 children and 15 adult galactosaemics and compared the results with 30 and 27 control children and adults, r espectively. The results indicate that UDPGal levels were found to be significantly reduced in galactosaemic patients and UDPGlc/UDPGal rati os significantly increased.