Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and dairy products. It is caused by a deficiency of certain enzymes needed to break down galactose into glucose, which is the body's primary source of energy.
Individuals with galactosemia are unable to properly process galactose, leading to its accumulation in the body. This can result in various health problems, including liver damage, cataracts, intellectual disability, and developmental delays.
Early diagnosis and treatment are crucial in managing galactosemia. Infants are typically screened for the disorder shortly after birth, allowing for early intervention. Treatment involves a strict galactose-free diet, which means avoiding all sources of galactose, including milk, cheese, and other dairy products.
With proper management, individuals with galactosemia can lead relatively normal lives. However, it is important for them to adhere to the dietary restrictions throughout their lives to prevent complications and maintain good health.