Galactosemia synonyms

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 caused by a deficiency or absence of an enzyme called galactose-1-phosphate uridylyltransferase (GALT), which is responsible for breaking down galactose into glucose.

Individuals with galactosemia are unable to properly process galactose, leading to its accumulation in the body. This can result in a range of symptoms and complications, particularly when galactose-containing foods are consumed. The severity of the condition can vary from mild to severe, depending on the level of enzyme deficiency.

Symptoms

The symptoms of galactosemia can manifest shortly after birth, once an affected infant begins consuming breast milk or formula. These symptoms may include:

• Jaundice (yellowing of the skin and eyes)


• Poor weight gain and growth


• Lethargy and irritability


• Vomiting


• Diarrhea


• Enlarged liver


• Developmental delays


• Cataracts (clouding of the lens in the eye)

Synonyms

Galactosemia is also known by several other names, including:

• Galactose-1-phosphate uridyltransferase deficiency


• GALT deficiency


• Galactose-1-phosphate uridylyltransferase deficiency


• Galactose-1-phosphate uridylyltransferase deficiency


• Galactosemia type I

Treatment

Currently, there is no cure for galactosemia. The primary treatment involves a strict galactose-free diet, which means avoiding all sources of galactose, including milk, dairy products, and certain fruits and vegetables. Infants with galactosemia are typically given a specialized formula that does not contain galactose.

Early diagnosis and lifelong management of galactosemia are crucial to prevent complications and promote healthy development. Regular monitoring and follow-up with healthcare professionals, including genetic counselors and dietitians, are essential for individuals with galactosemia.