Laboratory Diagnosis of Inborn Errors of Metabolism in Children

Abstract

A compendium of tests available to diagnose children with inborn errors of metabolism is presented. It is intended to provide the pediatric pathologist with a rational way of using laboratory tests to investigate a patient who is suspected of having an inborn error of metabolism. It is intended to bridge the gap between the ward and the laboratory by providing a framework for investigations of such children.

Key Words:

• inborn errors
• metabolic disorders
• laboratory tests