Testing Strategy for Inborn Errors of Metabolism in the Neonate

Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant9s prognosis. Initial screening tests can provide a general overview of the infant9s metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic features, and nonimmune hydrops. Confirmatory testing (enzyme analysis or molecular DNA testing) are required to make the diagnosis. Clinicians should be aware of specific requirements for such testing to obtain the desired results.