Patient's question:
The child doesn't eat much and is quite weak, so we took him to the hospital for a thorough examination. The doctor said he suffers from galactosemia. The child has always been frail, and we've been worried sick about him. I want to know what galactosemia is.Doctor's answer:
Galactosemia is a human genetic disorder of autosomal recessive 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.