Galactosemia is due to a deficiency in which enzyme?

Galactosemia is a genetic metabolic disorder characterized by an inability to properly metabolize galactose, a sugar found in milk and other dairy products. The condition mainly arises due to a deficiency in the enzyme galactose-1-phosphate uridyl transferase. This enzyme plays a critical role in the Leloir pathway, which is responsible for the conversion of galactose to glucose. Specifically, galactose-1-phosphate uridyl transferase facilitates the transfer of a uridyl group from uridine diphosphate (UDP) to galactose-1-phosphate, resulting in the formation of UDP-galactose and glucose-1-phosphate.

When there is a deficiency of this enzyme, galactose accumulates in the body, leading to various complications, including liver damage, cataracts, and intellectual disability if not treated early. The identification and treatment of galactosemia typically involve dietary management that restricts galactose intake, effectively preventing the serious consequences associated with the enzyme deficiency. This knowledge of galactosemia and the critical role of galactose-1-phosphate uridyl transferase emphasizes the importance of proper enzymatic function in carbohydrate metabolism and its implications for