Vomiting in a Child with a Metabolic Disorder

Inborn errors of metabolism (IEMs) are genetic disorders that cause disruption of a metabolic pathway leading to either the accumulation of a toxic substrate proximal to the metabolic block, a deficiency of a product distal to the block, or a diversion of the substrate to an alternative pathway. Patients follow specialized diets and use medications to supplement missing substrates or bypass the affected pathway; however, they often require emergency care for the management of metabolic derangements. This chapter reviews the major pathophysiologic principles of metabolic crisis, the initial management, and the complications that can occur.