1 Department of Paediatrics and Medicine, University of Manitoba, and Clinical Investigation Unit, Children's Hospital, Winnipeg, Manitoba
Galactosemia is an inborn error of metabolism in which the enzyme galactose-1-phosphate uridyl transferase is deficient. The accumulation of galactose-1-phosphate in tissues exposed to galactose has been postulated as the mechanism responsible for the toxic manifestations of the disease. Previous reports suggested that the accumulation of galactose-1-phosphate within the red blood cell interferes with oxygen consumption, adenosine triphosphate (ATP) synthesis or breakdown, and the maintenance of other phosphate intermediates of glycolysis. The in vitro studies of Pennington and Prankerd were performed using erythrocytes suspended in a glucose-free medium. This lack of glycolytic substrate may have contributed to the diminished ATP and 2,3 diphosphoglyceric (2,3 DPG) synthesis observed.