Originally Posted by hope2015
Why does patient with defect in Galactose 1 - phosphate uridyl transferase enzyme have cataract??? Because galactose is metabolized by galactokinase to galactose 1- phosphate....it has to affect only the liver and brain right....its kind of confusing for me....so does galactosemia means defect in any one of the enzyme or both....can somebody help me with this...
when galactose 1 phosphate uridyl transferase is deficient it also leads to backing up of galactose up the chain...thats y cataract.!! galactosemia can be due to the deficiency of any of the 2 enzymes