Inborn errors of metabolism

Handb Clin Neurol. 2019:162:449-481. doi: 10.1016/B978-0-444-64029-1.00022-9.

Abstract

Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common. Many are treatable through restoration of homeostasis of a disrupted metabolic pathway. Given their frequency and potential for treatment, the clinician should be aware of this group of conditions and learn to identify the typical manifestations of the different inborn errors of metabolism. In this review, we summarize the clinical, laboratory, electrophysiologic, and neuroimaging findings of the different inborn errors of metabolism that can present with florid neurologic signs and symptoms in the neonatal period.

Keywords: Inborn errors of metabolism; Inherited metabolic diseases; Neonatal encephalopathy; Neonatal hypotonia; Neonatal seizures.

Publication types

  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / diagnostic imaging
  • Infant, Newborn, Diseases / physiopathology
  • Infant, Newborn, Diseases / therapy*
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / diagnostic imaging
  • Metabolism, Inborn Errors / physiopathology
  • Metabolism, Inborn Errors / therapy*
  • Neuroimaging
  • Pregnancy