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Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia
Saud H Aldubayan1, Lance H Rodan, Gerard T Berry
1*Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Pediatric Emergency Care
|February 1, 2017
Summary
Inborn errors of metabolism (IEM) are rare genetic disorders collectively affecting 1:1000 newborns. Prompt recognition and management by acute care physicians are crucial for preventing life-threatening crises in patients with these metabolic diseases.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
- Emergency Medicine
Background:
- Inborn errors of metabolism (IEM) are genetic disorders impacting metabolic pathways.
- Individually rare, IEMs collectively occur in 1:1000 live births.
- Patients often require specialized biochemical genetics care but may present acutely to non-specialist physicians.
Purpose of the Study:
- To provide guidance for the initial assessment and management of patients with IEMs in acute settings.
- To improve the early care and comfort level of acute care physicians managing organic acidemias.
- To facilitate timely specialist consultation for patients with inborn errors of metabolism.
Main Methods:
- This protocol outlines initial assessment and management strategies for IEMs.
- It focuses on recognizing and intervening in acute, life-threatening presentations.
- The protocol serves as a bridge until expert biochemical genetics consultation is obtained.
Main Results:
- Early recognition and intervention in IEMs can be lifesaving.
- Familiarity with IEM presentations is critical for emergency medicine, pediatrics, internal medicine, and critical care physicians.
- This protocol aims to enhance the acute care physician's ability to manage organic acidemias effectively.
Conclusions:
- Acute care physicians play a vital role in the initial management of IEMs.
- Standardized protocols improve patient outcomes by ensuring prompt and appropriate care.
- Collaboration between acute care and specialist physicians is essential for optimal IEM patient management.
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