Question
My colleague’s child is very young and was diagnosed with galactosemia. I am very worried, fearing that the child might have an accident in the future. How does this disease occur?
Answer
Galactosemia is a human autosomal recessive genetic disorder. Milk and dairy products contain lactose, which is broken down into glucose and galactose in the human body. For infants with galactosemia, their genotype is recessive homozygous (GG), lacking the enzyme to break down galactose, resulting in elevated levels of galactose in the blood and symptoms such as vomiting, liver enlargement, cataracts, developmental delays, and intellectual impairment.