Recognizing and Managing a Metabolic Crisis.
Pediatric clinics of North America(2023)
摘要
In some relatively common inborn errors of metabolism there can be the accumulation of toxic compounds including ammonia and organic acids such as lactate and ketoacids, as well as energy deficits at the cellular level. The clinical presentation is often referred to as a metabolic emergency or crisis. Fasting and illness can result in encephalopathy within hours, and without appropriate recognition and intervention, the outcome may be permanent disability or death. This review outlines easy and readily available means of recognizing and diagnosing a metabolic emergency as well as general guidelines for management. Disease-specific interventions focus on parenteral nutrition to reverse catabolism, toxin removal strategies, and vitamin/nutrition supplementation.
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关键词
Inborn error of metabolism, Hyperammonemia, Metabolic acidosis, Anion gap, Lactate, Ketone, Catabolism, Sodium phenylbutyrate
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