Question
What is Galactosemia?
Answer
Galactosemia is a genetic metabolic disorder passed down through generations in humans, caused by a deficiency in the 1-phosphogalactose uridylyltransferase enzyme, which prevents infants from metabolizing lactose in milk, leading to the formation of galactose. Galactosemia is a toxic clinical diagnosis metabolic syndrome characterized by elevated blood galactose levels. Any congenital defect in any of the three related enzymes in the galactose metabolism process can lead to galactosemia.