Inborn Errors of Metabolism in the Emergency Department (Undiagnosed and Management of the Known)

An inborn error of metabolism should be considered in any neonate who presents to the emergency department in extremis and in any young child who presents with altered mental status and vomiting. In children with unknown diagnoses, it is crucial to draw the appropriate laboratory studies before the institution of therapy, although treatment needs rapid institution to mitigate neurologic damage and avoid worsening metabolic crisis. Although there are hundreds of individual genetic disorders, they are roughly placed into groups that present similarly. This article reviews the approach to the patient with unknown metabolic diagnosis and up-to-date management pearls for children with known disorders.

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