Despite the diverse etiology and complexity of inborn errors of metabolism, ED resuscitation and stabilization of patients with these disorders is relatively simple. Neonates, infants, and children presenting in metabolic crisis, regardless of cause, show some combination of dehydration, metabolic acidosis, and encephalopathy, which must be immediately addressed. The goals of treatment are, to improve circulatory status by restoring circulatory volume, provide energy substrate to halt catabolism, remove the inciting metabolic substrate (formula or breast milk), and help eliminate toxic metabolites.
Patients with a newly diagnosed or suspected metabolic disorder and those who are dehydrated or otherwise decompensated require admission for dextrose and specific treatment. Transfer to a pediatric hospital may be required.