Hyperammonemia and Metabolic Diseases

  • Stefano Picca
  • Carlo Dionisi-Vici


A 5-day old newborn boy is admitted at the Emergency Department of our Hospital with cardiorespiratory failure and coma. High levels of plasma ammonium are found and a metabolic congenital defect is suspected. Medical treatment and diagnostic workup are started. The non-response to medical treatment requires prompt initiation of dialysis.

In this chapter causes, ammonium toxicity, clinical course, diagnosis and treatment of hyperammonemia in Inborn Errors of Metabolism are presented.


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Stefano Picca
    • 1
  • Carlo Dionisi-Vici
    • 2
  1. 1.Pediatric Dialysis Unit, Department of Pediatrics“Bambino Gesù” Children’s Research Hospital, IRCCSRomeItaly
  2. 2.Metabolic Unit, Department of Pediatrics“Bambino Gesù” Children’s Research Hospital, IRCCSRomeItaly

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