Testing & Diagnosis for Galactosemia in Children

In the Metabolism Program at Boston Children’s Hospital, diagnosis for galactosemia is based on a comprehensive review of medical and family history, physical evaluation and specific biochemical testing. In addition, we have, in concert with the New England Newborn Screening Program, one of the best Newborn Screening programs in the world. All infants born in New England will be tested on day 2 of life for galactosemia.

In addition, under the Newborn Screening Program, every baby born in New England is tested for more than 30 genetic, endocrine and metabolic disorders. 

Newborn Screening Evaluation

Metabolic disorders such as galactosemia can often be a challenge to diagnose since the physical signs of disease may not be present at birth. Newborn Screening is a testing procedure that was developed to identify these kinds of diseases in newborns. This screening test is important because the earlier these disorders are identified, the less likely a child will have long-term problems or irreversible complications.  Unfortunately, this is not always the case with galactosemia.

  • Before leaving the hospital after birth, a small sample of blood is taken from the baby’s heel. This blood sample is put on a special piece of paper and sent to the New England Newborn Screening Program for analysis. If the test results are positive, the baby will be sent to the proper treatment center.
  • Babies who test positive in New England may be sent to the Metabolism Program at Boston Children’s Hospital. To confirm the diagnosis, we obtain a fresh sample of blood and a urine specimen and send them to our Metabolic Laboratory. Because untreated infants may die in the first two weeks of life, we will begin diet therapy even before a positive diagnosis is confirmed.
  • Although screening tests are mandatory in all states, not all states screen for the same disorders. To find a comprehensive list of what disorders your state screens for, visit the National Newborn and Genetics Resource Center.

Genetic testing

Genetic testing for galactosemia can be performed on a CVS or amniotic fluid sample. This test evaluates the likeliness that the disorder is present in a fetus.  Genetic testing is employed after birth to determine the exact type of GALT gene mutation in an infant who has a confirmed GALT enzyme deficiency.