An update on inborn errors of metabolism is provided by Linda Sawley

The number of recognised inborn errors of metabolism (IEM) has grown rapidly this century. With increasingly sophisticated laboratory techniques, doctors are able to diagnose disorders that were previously unknown (1). The pooling of knowledge internationally is also helping to establish large databases to monitor the progression and long-term effects of diseases. In this article, the mechanisms of inborn errors are reviewed and the main diseases summarised.