Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. It is an autosomal recessive disorder, meaning that both parents must carry the faulty gene for their child to be affected.
The prevalence of Galactosemia varies among different populations. In general, it is estimated to occur in approximately 1 in every 30,000 to 60,000 live births worldwide. However, the prevalence can be higher in certain ethnic groups, such as the Irish Traveller population, where it is estimated to affect 1 in every 4,500 births.
Galactosemia can lead to serious health complications if not managed properly. Infants with Galactosemia may experience feeding difficulties, jaundice, liver damage, and developmental delays. Long-term complications can include intellectual disability, speech and language disorders, and ovarian or testicular dysfunction.
Early diagnosis and dietary management are crucial in managing Galactosemia. Treatment involves eliminating galactose and lactose from the diet, which requires avoiding all sources of milk and dairy products. With proper management, individuals with Galactosemia can lead healthy lives and minimize the risk of complications.