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Neonatology pp 1805-1832 | Cite as

Inborn Errors of Metabolism and Newborns

  • Nicola Brunetti-Pierri
  • Giancarlo Parenti
  • Generoso Andria
Reference work entry

Abstract

Inborn errors of metabolism are a large group of genetic diseases due to disruption of biochemical reactions. Advances in the understanding of the molecular and biochemical bases of several of these disorders have led to major progress in the diagnosis and treatment. Although individually rare, inborn errors of metabolism are relatively frequent with a collective incidence of up to 1 in 400 births. For several disorders, the patient’s outcome in terms of mortality and morbidity is dependent upon a prompt diagnosis and treatment. Unfortunately, neonatal presentations are generally nonspecific and usually include poor feeding, vomiting, breathing difficulties, lethargy, hypotonia, hypothermia, and seizures. Therefore, several patients are often undiagnosed or misdiagnosed. Nevertheless, clues from the history, clinical presentation, or basic biochemical studies should raise the suspicion of a metabolic disease. With a relatively small number of laboratory tests, the neonatologist can initiate appropriate diagnostic investigations and start appropriate therapies. An accurate diagnosis is of primary importance also for parental counseling. The implementation of expanded newborn screening in several countries is allowing detection of a growing number of inborn errors of metabolism in their pre- or early symptomatic phases and is changing their management and treatment which will likely modify also their natural history.

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Nicola Brunetti-Pierri
    • 1
  • Giancarlo Parenti
    • 1
  • Generoso Andria
    • 1
  1. 1.Department of Translational Medicine, Section of PediatricsFederico II University of NaplesNaplesItaly

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