ABSTRACT
Young children with inborn errors of metabolism often present to medical care in extremis, although their symptoms can be nonspecific. Rare metabolic disorders are not always on the statewide newborn screening panels, so infants and children can present later in life with vomiting, altered mental status, seizures, coma, or death, without any indication prior of a metabolic disorder. Swift transport to a pediatric specialty center can be lifesaving and prevent neurologic damage in these patients while awaiting definitive testing for these genetic disorders. Transport of these patients is complicated because they are often critically ill yet do not respond normally to routine resuscitation. In this case, we describe the transport of a patient with a rare, undifferentiated inborn error of metabolism with a pediatric specialty flight team and the considerations made in resuscitation and treatment of this patient in flight.
