Diagnostic approach to inborn errors of metabolism in an emergency unit

Abstract

1) the diagnosis of an IEM has often been made after the first consultation at the EU, leading to hospitalization; 2) we should suspect an IEM in patients with neurologic abnormalities (eg, developmental delay, hypotonus or feeding difficulties), especially in those patients with multisystem involvement who appear with acute symptoms; 3) it is of the greatest importance that the appropriate sample collection be made before starting any treatment, because abnormal biochemical data can yield a first approach and allow the definitive diagnosis; and 4) the diagnosis of a patient with an IEM is not based on a single clinical or biochemical data but rather on all abnormal features taken together.