Inborn errors of metabolism

Carlos R. Ferreira, Clara D. M. van Karnebeek

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review


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.
Original languageEnglish
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Publication statusPublished - 1 Jan 2019
Externally publishedYes

Publication series

NameHandbook of Clinical Neurology
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

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