Clinical Communications: Pediatric|Articles in Press

A Deadly Case of Dehydration: Organic Acidemias in the Emergency Department

  • Allison Henning
    Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania

    Department of Internal Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania
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  • Joshua Glasser
    Reprint Address: Joshua Glasser, MD, Department of Emergency Medicine, Penn State Health Milton S. Hershey Medical Center, 500 University Dr., Hershey, PA 17033
    Department of Pediatrics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania

    Department of Emergency Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania
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Published:February 24, 2023DOI:



      Organic acidemias are rare genetic mutations, most commonly identified in the newborn period. Late-onset presentations present a diagnostic conundrum. Early identification and appropriate management can be lifesaving.

      Case Report

      We describe the case of a 3-year-old boy who presented to urgent care with 2 days of nausea, vomiting, and diarrhea followed by respiratory distress, shock, and encephalopathy. Brisk recognition of his shock state led to an urgent transfer to a tertiary care pediatric emergency department by air where his shock was treated and hyperammonemia was uncovered, leading to the diagnosis of late-onset propionic acidemia, which was subsequently managed with a good outcome.

      Why Should an Emergency Physician Be Aware of This?

      Late-onset presentations of inborn errors of metabolism, including organic acidemias, represent one of the most challenging pediatric cases an emergency physician can encounter. This case reviews the management and diagnosis of a late-onset inborn error of metabolism and emphasizes how prompt diagnosis and treatment can lead to a favorable outcome.


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