As soon as the diagnosis of a metabolic disorder is suspected, a plan for its emergency management should be made. As stated in Chapter 1, both the presentation and the management depend mainly on the pathophysiology involved. This chapter focuses on the main clinical presentations in neonates and children with those inborn errors of metabolism for which emergency treatment may be life saving and outlines the first steps of such treatment up to when the exact diagnosis is known. The subsequent management of patients is addressed in the specific chapters.
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