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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.
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.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”