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

Allison Henning, Joshua Glasser

Research output: Contribution to journalArticlepeer-review

Abstract

Background: 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.

Original languageEnglish (US)
Pages (from-to)496-501
Number of pages6
JournalJournal of Emergency Medicine
Volume64
Issue number4
DOIs
StatePublished - Apr 2023

All Science Journal Classification (ASJC) codes

  • Emergency Medicine

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