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Recognizing and Managing a Metabolic Crisis.

Peter R Baker1

  • 1University of Colorado, Children's Hospital Colorado, 13123 East 16th Avenue, Box 300, Aurora, CO 80045, USA.

Pediatric Clinics of North America
|September 13, 2023
PubMed
Summary
This summary is machine-generated.

Metabolic emergencies, caused by inborn errors of metabolism, can lead to severe neurological issues. Prompt recognition and intervention, including parenteral nutrition and toxin removal, are crucial for preventing disability or death.

Keywords:
Anion gapCatabolismHyperammonemiaInborn error of metabolismKetoneLactateMetabolic acidosisSodium phenylbutyrate

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Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Inborn errors of metabolism can cause toxic compound accumulation (e.g., ammonia, organic acids) and cellular energy deficits.
  • These conditions can rapidly lead to encephalopathy, particularly during fasting or illness, presenting as a metabolic emergency or crisis.

Purpose of the Study:

  • To review accessible methods for recognizing and diagnosing metabolic emergencies.
  • To provide general guidelines for the management of metabolic crises.

Main Methods:

  • Literature review of diagnostic and management strategies for inborn errors of metabolism presenting as emergencies.
  • Focus on readily available diagnostic tools and general management principles.

Main Results:

  • Metabolic emergencies require rapid identification due to the risk of severe outcomes like permanent disability or death.
  • Key interventions include parenteral nutrition to reverse catabolism, toxin removal, and nutritional support.

Conclusions:

  • Early recognition and prompt intervention are critical for improving outcomes in patients with metabolic emergencies.
  • A combination of supportive care, toxin elimination, and specific nutritional therapies is essential for managing these conditions.