Galactosemia

Abnormal Newborn Screening Results and Additional Testing

If your baby’s newborn screening results are abnormal, your baby will need to have another test.  Not every abnormal result means your baby has a disorder.  It is important to have quick follow-up testing. Without treatment, Galactosemia can result in harmful effects soon after birth.

The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.

The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Galactosemia.

Metabolic Clinic (801) 585-2457

About Galactosemia

Children affected by Galactosemia are not able to break down a sugar found in milk products called galactose. Harmful amounts of undigested sugars build up in the body as a result.

If untreated, Galactosemia can cause seizures, developmental delays, blood infections, liver damage, or even death.  However, if the condition is detected early and proper treatment is followed, children with Galactosemia often lead healthy lives.

Frequency

Galactosemia affects approximately 1 in 30,000 to 60,000 babies in the United States.

Condition Type

Galactosemia is a genetic disorder.

Also Known As

  • GALT
  • GALT Deficiency
  • Classic Galactosemia
  • Galactose-1-Phosphate Uridyltransferase Deficiency
  • G1PUT
  • Enzyme Activity