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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:
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
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