Inborn errors of metabolism.

Adult Female Humans Infant, Newborn Infant, Newborn, Diseases / diagnosis Metabolism, Inborn Errors / diagnosis Neuroimaging Pregnancy
Inborn errors of metabolism Inherited metabolic diseases Neonatal encephalopathy Neonatal hypotonia Neonatal seizures

Journal

Handbook of clinical neurology
ISSN: 0072-9752
Titre abrégé: Handb Clin Neurol
Pays: Netherlands
ID NLM: 0166161

Informations de publication

Date de publication:
2019
Historique:
entrez: 21 7 2019
pubmed: 22 7 2019
medline: 14 1 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/B978-0-444-64029-1.00022-9 PMID: 31324325
pubmed: 31324325
pii: B978-0-444-64029-1.00022-9
doi: 10.1016/B978-0-444-64029-1.00022-9
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

449-481

Informations de copyright

Copyright © 2019 Elsevier B.V. All rights reserved.

Auteurs

Carlos R Ferreira (CR)

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.

Clara D M van Karnebeek (CDM)

Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address: c.d.vankarnebeek@amstedarmumc.nl.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Inborn errors of metabolism.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Inborn errors of metabolism.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Inborn errors of metabolism.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Inborn errors of metabolism.
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Inborn errors of metabolism.
questionsmedicales.fr › Techniques d'investigation › Neuroimagerie › Inborn errors of metabolism.
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Inborn errors of metabolism.