Journal
PEDIATRIC CLINICS OF NORTH AMERICA
Volume 65, Issue 2, Pages 179-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.pcl.2017.11.002
Keywords
Inborn errors of metabolism (IEM); IEM diagnostic approach; IEM classification; IEM in neonates; IEM acute presentations; Metabolic comas; IEM with chronic encephalopathy; Treatable IEM
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Funding
- Plan Nacional de I+D+I and Instituto de Salud Carlos III- Subdireccion General de Evaluation y Fomento de la Investigacion Sanitaria [PI15/01082]
- European Regional Development Fund (FEDER) [PI15/01082]
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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.
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