Patient's question:
I got divorced this year and now want to have children, but I was diagnosed with galactosemia. The doctor said this condition is hereditary. What are the chances of galactosemia being inherited over generations?Doctor's answer:
The main cause of this disease is that patients lack galactosyltransferase due to a defect in intergenerational inheritance, which enhances the blood concentration of galactose and phosphogalactose, leading to toxicity and various symptoms. The enzyme activity test result is the main basis for diagnosis. Additionally, for these patients, dietary therapy is the primary method, which involves stopping breastfeeding and consuming other dairy products, and replacing them with lactose-free formula or nutritional glucose-free milk powder. The parents of the patients must pay particular attention. The earlier dietary restriction begins, the better the prospects for the child's development.