Metabolic Emergency in Flight.

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.