Demonstration of an accumulation of galactose-1-phosphate in the liver from congenital galactosemia.

Congenital galactosemia is an inborn error of metabolism characterized by an inability to metabolize galactose. It has been established1-3) that the disease is due to congenital absence or deficiency in the enzyme, galactose-l-phosphate uridyl transferase, which catalyzes the conversion of galactose-l-phosphate (Gal1-P) to glucosel-phosphate. This enzyme defect may lead to an accumulation of Gal-1-P, which may in turn cause cellular injury. Schwarz et al.4) found the accumulation of large amounts of Gal-1-P in the erythrocytes of galactosemic patients after they were given milk or after their erythrocytes were incubated with galactose in vitro. However, the direct evidence of accumulation of Gal-1P in the liver of the patient with this particular disorder is, as far as we know, lacking despite that the liver is the major organ for galactose metabolism. In this paper, chromatographical demonstration of Ga-1-P in the liver of a