Patient's question:
My colleague's child is still very young, but they were surprisingly found to have galactosemia through a thorough examination. I'm quite worried and sad that the child might have an accident in the future. How does this disease occur?Doctor's answer:
Human autosomal recessive genetic disease. Both human milk and cow's milk contain lactose, which enters the human body and is broken down into glucose and galactose. Galactose can be compressed and utilized in normal infants due to the required enzyme. For infants with galactosemia, the genotype for this enzyme is homozygous recessive (GG). Due to the lack of this required enzyme, galactose cannot be utilized, leading to an increase in galactose levels in the blood, which again causes symptoms such as nausea, vomiting, liver enlargement, cataracts, developmental delays, and intellectual disabilities.