The core principle involves the enzymatic conversion of lactose into glucose and galactose via specific brush-border enzymes, where downstream metabolic flux is regulated by kinases (phosphorylating substrates) and transferase reactions within glycolytic pathways. The theory defines distinct pathophysiological states based on enzyme deficiencies in this sequence: classic galactosemia arises from the inhibition of UDP-galactose 4'-epimerase leading to toxic metabolite accumulation, while lactase deficiency represents a primary or secondary failure of the initial hydrolysis step without downstream substrate buildup. This concept operates within human biochemistry and medical genetics, illustrating how single-enzyme failures alter metabolic equilibrium, cause specific organ toxicity (e.g., cataracts via lens trapping), and determine clinical phenotypes ranging from mild to severe sepsis susceptibility in infants.
The core principle involves the enzymatic conversion of lactose into glucose and galactose via specific brush-border enzymes, where downstream metabolic flux is regulated by kinases (phosphorylating …