Patient's question:
The child doesn't eat much and is dry, so they went to the hospital for a thorough check-up and were told that they have galactosemia. The child has always been weak and frail, and I've been worried sick about them. I want to know what galactosemia is.Doctor's answer:
Galactosemia is a human genetic disorder of hereditary metabolic deficiency, caused by a lack of 1-phosphogalactose uridylyltransferase, which prevents infants from metabolizing lactose in milk into galactose. Galactosemia is a toxic clinical metabolic syndrome characterized by elevated blood galactose levels. Any congenital deficiency in one of the three enzymes involved in galactose metabolism can lead to galactosemia.