Question

What is the probability of galactosemia being inherited from generation to generation?

Answer

The primary cause of galactosemia is the lack of galactose-1-phosphate uridyltransferase in patients, leading to elevated levels of galactose and galactose-1-phosphate in the blood, which produce toxicity and various symptoms. Enzyme activity testing is the main basis for diagnosis. For these patients, dietary treatment is the main method of treatment, which involves stopping breastfeeding and consuming dairy products and switching to lactose-free milk powder or special formula. Parents must pay special attention to early dietary control, as it can improve the prognosis of the child.