Patient's question:
My son hasn't been doing well since he came out of the postpartum period. He went to various places for check-ups and was diagnosed with galactosemia at Beijing Children's Hospital. He is now three years old. Recently, he has eaten some ice cream containing milk. It has been more than two years since his last check-up. Do I need to take him for a follow-up check-up?Doctor's answer:
It should. Removing galactose from the diet can reverse growth retardation and liver and kidney failure. Cataracts gradually disappear, and most patients do not have visual impairment. Early diagnosis and treatment can improve the prognosis of patients, but long-term follow-up shows that patients still have ovarian dysfunction, primary and secondary amenorrhea, developmental delay, learning disabilities, and symptoms worsen with age. Most patients have language disorders, and only a few patients have growth retardation and balance movement dysfunction (significant ataxia may or may not be present).