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.
Keywords
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Article info
Publication history
Published online: February 24, 2023
Accepted:
February 17,
2023
Received in revised form:
January 6,
2023
Received:
June 7,
2022
Publication stage
In Press Uncorrected ProofIdentification
Copyright
© 2023 Elsevier Inc. All rights reserved.
