Patient's question:
I got married this year and am now planning to have a baby. During the pre-pregnancy health check-up, I was diagnosed with galactosemia and told that I cannot have children. What should I do? What is galactosemia?Doctor's answer:
Galactosemia is a genetic disorder of intergenerational inheritance and catabolism. After birth, infants with the disease cannot metabolize galactose through breastfeeding, and they cannot digest its nutrients, leading to endocrine disorders, cataracts, intellectual disability, and hepatosplenomegaly. Galactosemia is a congenital catabolic disorder in infants. It is a common chromosomal recessive inheritance. If the infant does not consume dairy products, the condition will improve. When the infant has passed the weaning stage, they can undergo normal development.