Abstract

Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders

Highlights

  • Hepatic glycogen storage diseases (GSD) and fatty acid oxidation defects (FAODs) are rare diseases in the group of inborn errors of metabolism (IEM)

  • Generators of IEM-specific emergency letters are available in some languages, as recently summarized by Rossi and coworkers [1,4]

  • The key measure in many IEM emergency protocols is the prevention of catabolism and subsequent metabolic decompensation by promoting anabolism [1,2];

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Summary

Introduction

Hepatic glycogen storage diseases (GSD) and fatty acid oxidation defects (FAODs) are rare diseases in the group of inborn errors of metabolism (IEM). Generators of IEM-specific emergency letters are available in some languages, as recently summarized by Rossi and coworkers [1,4].

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