Galactosemia Classical (Blood) Test

Galactosemia Classical (Blood) Test is a diagnostic test that measures the level of galactose-1-phosphate uridyltransferase (GALT) in the blood. GALT is an enzyme that is involved in the metabolism of galactose, a simple sugar found in milk and other dairy products. Galactosemia is an inherited disorder in which the body is unable to properly metabolize galactose, leading to a build-up of galactose-1-phosphate in the blood and tissues. This build-up can cause serious health problems, including liver damage, cataracts, and intellectual disability.

• The Galactosemia Classical (Blood) Test is used to diagnose galactosemia in newborns and young infants. It is typically performed as part of newborn screening programs, which aim to detect and treat certain genetic disorders before they can cause serious harm. The test involves collecting a small sample of blood from the baby's heel and analysing it in a laboratory.
• If the Galactosemia Classical (Blood) Test results are positive, further testing will be needed to confirm the diagnosis and determine the severity of the condition. Treatment for galactosemia typically involves a strict lactose-free diet and close monitoring of the patient's health.

If you suspect that you or your child may have galactosemia, talk to your doctor about whether the Galactosemia Classical (Blood) Test is appropriate for you. Early diagnosis and treatment can help prevent or minimize the complications associated with this condition.