Abstract

Inborn errors of metabolism (IEM) constitute a group of inherited disorders that cause significant neonatal morbidity and mortality. This diverse group of diseases present with different clinical manifestations that make the diagnosis a real challenge. Early detection and appropriate investigations prevent complications and save lives. The aim of this review is to enable general paediatricians to clinically recognize IEM and plan relevant investigations at the appropriate time in a cost-effective manner, especially in countries where resources are limited.

Key words: Diagnosis; Inborn errors; Metabolism; Neonate