Patient's question:
My baby has just been diagnosed with galactosemia. Can I feed him lactose-free formula now?Doctor's answer:
Disease Analysis: Galactosemia: A genetic metabolic defect in humans caused by a deficiency of galactose-1-phosphate uridyltransferase, leading to infants being unable to metabolize galactose produced by the breakdown of lactose in milk. It is a hereditary disease characterized by an increase in galactose in the blood and urine. The main symptoms include nutritional disorders, cataracts, intellectual disability, and hepatosplenomegaly.Medical Advice: Hello, after early diagnosis, it is important to eliminate galactose from the diet. Some advocate that dietary restrictions can be lifted after the age of one, but it is generally recommended to adhere to this restriction for life. With timely treatment, conditions such as cataracts, hepatomegaly, and cirrhosis can be reversed. It is important to note that asymptomatic homozygous females may experience elevated blood galactose levels after consuming high-lactose foods. Babies born to these women may have galactosemia. This is particularly relevant for mothers who have previously given birth to infants with galactosemia, who should limit galactose intake during pregnancy.