• Raashda A Sulaiman, Abdulaziz Alali, Sulaiman Hosaini, Maged Hussein, Farooq Pasha, Muneerah Albogami, Aamir N Sheikh, Moeen AlSayed, and Mohammed Al-Owain.
• Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: rsulaiman@kfshrc.edu.sa.
• Am J Emerg Med. 2022 May 1; 55: 138-142.

IntroductionAn increasing number of pediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the availability of advanced diagnostic technology. Knowledge of these inherited metabolic disorders in adults is crucial for the emergency physician to promptly recognize their acute illness and appropriately manage them in the emergency department.ObjectiveThis review provides an overview of various inherited metabolic disorders which present to the emergency department with acute metabolic decompensation.Evaluation And ManagementAcute illness in these patients is often triggered by a catabolic event such as intercurrent illness, fasting, postpartum, or use of certain medication. It may present in a variety of ways related to severe hyperammonemia, metabolic acidosis, leucine encephalopathy or hypoglycemia. In this review, we describe the clinical presentation, evaluation and immediate management of their critical illness in the emergency department.ConclusionAcute metabolic decompensation is a life-threatening condition. The emergency physician is usually the first provider to evaluate these patients when they present to the emergency department. Early recognition of their illness and prompt management of these cases improve patient outcomes.Copyright © 2022 Elsevier Inc. All rights reserved.

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