TY - JOUR
T1 - A Deadly Case of Dehydration
T2 - Organic Acidemias in the Emergency Department
AU - Henning, Allison
AU - Glasser, Joshua
N1 - Publisher Copyright:
© 2023 Elsevier Inc.
PY - 2023/4
Y1 - 2023/4
N2 - 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.
AB - 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.
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U2 - 10.1016/j.jemermed.2023.02.006
DO - 10.1016/j.jemermed.2023.02.006
M3 - Article
C2 - 37002163
AN - SCOPUS:85151903992
SN - 0736-4679
VL - 64
SP - 496
EP - 501
JO - Journal of Emergency Medicine
JF - Journal of Emergency Medicine
IS - 4
ER -