Patient's question:
My child's test results showed galactose, with slightly elevated galactitol levels. I'm not sure if this means my child could have galactosemia. Should we switch to a different formula now? The child is already five months old.What kind of help is needed: Are there many babies with galactosemia?
Doctor's answer:
Galactosemia is a human genetic disorder inherited in an autosomal recessive manner, resulting from a deficiency of galactose-1-phosphate uridyltransferase, which prevents infants from metabolizing galactose derived from lactose in milk. This condition is an autosomal recessive genetic disease. Infants with galactosemia, due to the lack of the enzyme required to metabolize this galactose, cannot utilize galactose, leading to a decrease in blood galactose levels. This can result in symptoms such as vomiting, nausea, hepatomegaly, cataracts, developmental delays, and intellectual disability.