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

Jean-Marie Saudubray; Àngels Garcia-Cazorla

doi:10.1016/j.pcl.2017.11.002

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.

Authors

Jean-Marie Saudubray¹, Àngels Garcia-Cazorla²

Affiliations

¹ Department of Neurology, Neurometabolic Unit, Hopital Pitié Salpétrière, 47-83 Boulevard de l'Hopital, Paris 75013, France. Electronic address: jmsaudubray@orange.fr.
² Neurology Department, Neurometabolic Unit, Hospital Sant Joan de Deu and CIBERER-ISCIII, Passeig Sant Joan de Deu 28950 Esplugues de Llobregat, Barcelona, Spain.

PMID: 29502909
DOI: 10.1016/j.pcl.2017.11.002

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.

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*