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

Abstract

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 review 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.

Keywords: IEM acute presentations; IEM classification; IEM diagnostic approach; IEM in neonates; IEM with chronic encephalopathy; Inborn errors of metabolism (IEM); Metabolic comas; Treatable IEM.