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Pediatric Critical Care Study Guide pp 870–895Cite as

Metabolic Crises

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Abstract

The diagnosis and management of the acutely ill child with suspected metabolic disease can present a formidable challenge to even the most astute clinician. Metabolic disease may present in a fulminate fashion to the pediatric intensivist with profound biochemical disturbances, encephalopathy and even cardiac failure. The diagnosis of an inborn error of metabolism (IEM) may be delayed if a high index of suspicion is not maintained when an infant presents with critical illness. This chapter serves as a guide to the recognition of metabolic disease based on presenting signs, symptoms and screening laboratory tests. The rapid implementation of therapy for children with suspected or known metabolic disease will also be reviewed.

Keywords

  • Glycogen Storage Disease
  • Mitochondrial Disorder
  • Maple Syrup Urine Disease
  • Glutaric Aciduria Type
  • Biotinidase Deficiency

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Authors and Affiliations

  1. Department of Pediatrics, Pediatric Hospital Medicine, Geisinger Medical Center, Temple University School of Medicine, Janet Weis Children’s Hospital, Danville, PA, USA

    Paul J. Bellino M.D.

Authors
  1. Paul J. Bellino M.D.
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Correspondence to Paul J. Bellino M.D. .

Editor information

Editors and Affiliations

  1. Children's Heart Group, Div. Pediatric Critical Care, Penn State Children's Hospital, University Drive 500, Hershey, 17078, Pennsylvania, USA

    Steven E. Lucking

  2. Janet Weis Children's Hospital @ Geising, Pediatric Critical Care Medicine, Temple University School of Medicine, N. Academy Ave 100, Danville, 17822, Pennsylvania, USA

    Frank A. Maffei

  3. Milton S. Hershey Medical Center, Penn State College of Medicine, University Drive 500, Hershey, 17033-2390, Pennsylvania, USA

    Robert F. Tamburro

  4. College of Medicine, Penn State Children's Hospital, Pennsylvania State University, University Drive 500, Hershey, 17078, Pennsylvania, USA

    Neal J. Thomas

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© 2012 Springer-Verlag London Limited

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Bellino, P.J. (2012). Metabolic Crises. In: Lucking, S., Maffei, F., Tamburro, R., Thomas, N. (eds) Pediatric Critical Care Study Guide. Springer, London. https://doi.org/10.1007/978-0-85729-923-9_40

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  • DOI: https://doi.org/10.1007/978-0-85729-923-9_40

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  • Publisher Name: Springer, London

  • Print ISBN: 978-0-85729-922-2

  • Online ISBN: 978-0-85729-923-9

  • eBook Packages: MedicineMedicine (R0)

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