At Boston Children’s Hospital, we have already helped many infants and families who have been affected by galactosemia, a rare genetic metabolic disorder in which babies are born without the ability to convert the milk sugar, galactose, into glucose (the form of sugar used by the body for energy).

Here are the basics of galactosemia:

  • Galactosemia affects 1 in every 40,000 to 1 in 60,000 newborns around the world.
  • Galactosemia is one of the metabolic diseases that can be identified through Newborn Screening Evaluation.  Every state in the United States has or has access to a Newborn Screening Program and is mandated by law to screen for galactosemia.
  • Initial signs usually present in the first few weeks of life and include refusal to feed, vomiting, lethargy, jaundice, cataracts, and sepsis (infection).
  • Babies born with galactosemia need to be put on a special lactose-free diet shortly after birth in order to prevent serious multiorgan involvement including death.  If treatment is started after the first 10 days of life, it is believed that the majority of infants with severe or classic galactosemia will die because of a generalized infection.  If they do survive the first month of life untreated, they are likely to develop cirrhosis.

How Boston Children’s approaches galactosemia

The Metabolism Program at Boston Children's provides comprehensive evaluation and treatment for infants, children and adolescents who have diseases that involve metabolism. We also see adults who have been previously diagnosed with a metabolic disorder. 

Our program is staffed by a team of experienced clinicians, all of whom have specialized training in the care of individuals with metabolic diseases. Experts from Metabolism, Neurology, Gastroenterology, Nutrition, Ophthalmology, social work and Psychology work together to perform comprehensive and accurate neuroimaging, ocular assessments, neuropsychological studies, and other specialized evaluations.

Our multidisciplinary approach works to enhance a child’s health and development and helps them reach their maximum potential in all aspects of their normal activities.

Galactosemia: Reviewed by Gerard Berry, MD
© Boston Children’s Hospital; posted in 2012