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Improving surveillance for hyperammonemia in the newborn

Samantha A Vergano1, Jonathan M Crossette, Frederick C Cusick

  • 1Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Molecular Genetics and Metabolism
|June 11, 2013
PubMed

Insights

A new electronic medical record (EMR) alert system helps doctors quickly detect hyperammonemia in infants. This tool improves the early identification of this rare but serious condition.

Area of Science:

  • Biomedical Informatics
  • Pediatric Critical Care
  • Metabolic Disorders

Background:

  • Prompt diagnosis of hyperammonemia in infants is critical for effective management.
  • Delayed recognition of hyperammonemia is common due to patient rarity and diagnostic challenges.

Purpose of the Study:

  • To design and implement an electronic medical record (EMR)-based tool to aid physicians in detecting hyperammonemia.
  • To improve the timely identification of hyperammonemic infants.

Main Methods:

  • Retrospective analysis of hyperammonemic infant hospitalizations to identify triggers for an EMR warning.
  • Design and implementation of an EMR alert system.
  • Prospective analysis of the alert system's utilization.

Main Results:

  • Blood gas studies were consistently obtained early in infants (average 26 hours before ammonia level).
  • The EMR alert could have expedited ammonia testing in 89% of retrospective cases.
  • Over six months, the alert activated 184 times, leading to 63 lab evaluations and identifying one hyperammonemic infant.

Conclusions:

  • An EMR-based warning system enhances surveillance for hyperammonemia in at-risk infant populations.
  • This technological approach can significantly improve the early detection rates of hyperammonemia.
Abstract

Keywords:
CMPEMRElectronic medical recordIEMInfantScreeningUCDUrea cycle defectcomprehensive metabolic panelelectronic medical recordinborn error of metabolismurea cycle disorder

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