Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management

The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This article presents an updated pathophysiologic classification of inborn errors of metabolism and a method of clinical screening in neonates, late onset emergencies, neurologic deterioration, and other common clinical scenarios. When and how to investigate a metabolic disorder is presented to encourage physicians to use sophisticated biochemical investigations and not miss a treatable disorder.