Galactosemia is a rare inherited disorder in which the body is unable to properly break down galactose, a natural sugar found in milk and dairy products. Under normal circumstances, galactose is converted into energy by specific enzymes. In people with galactosemia, these enzymes are missing or do not work effectively, causing galactose to build up in the blood and body tissues. Over time, this buildup can damage vital organs such as the liver, brain, and eyes.
Symptoms usually appear in newborns soon after they start breast milk or formula. These may include poor feeding, vomiting, jaundice, low blood sugar, liver problems, and a higher risk of serious infections. If not treated early, galactose buildup can lead to long-term complications affecting the liver, brain, eyes, and overall development.
Although there is no cure, galactosemia is managed by strictly avoiding galactose and lactose in the diet for life. With early diagnosis and careful diet management, many individuals can grow up healthy and active.
