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

Pediatr Clin North Am. 2018 Apr;65(2):179-208. doi: 10.1016/j.pcl.2017.11.002.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Infant
  • Infant, Newborn
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / physiopathology
  • Metabolism, Inborn Errors / therapy
  • Neonatal Screening / methods*