Galactosemia in infancy: diagnosis, management, and prognosis

Galactosemia is an inherited metabolic disorder in which the individual is unable to metabolize lactose. In the newborn, classic galactosemia presents with symptoms of severe feeding intolerance, malnutrition, and rapid organ damage. Without immediate treatment, the infant will almost certainly succumb to rampant disease or sepsis. Through increased clinical awareness, pediatric care providers can be better prepared to detect and manage an infant with this disorder. A multidisciplinary approach is often necessary to maintain optimal health. The nurse can play an important role in coordinating specialty services and in helping the family to manage the disease and its sequelae over time.