Generic emergency protocol for patients with fatty acid oxidation disorders (FAOD) and glycogen storage diseases (GSD).
Emergency situations are a major burden for many IEM-patients and their families. An online generator for a generic emergency protocol can prevent life-threatening situations and will optimize communications between parents and doctors. This work is based on the emergency protocol module developed in the UMCG center of expertise guideline called ‘Emergency protocol for children with a risk of acute metabolic decompensation’ and reviewed and consented by … Centers of Expertise that are part of the MetabERN-network.
MetabERN is a European non-profit network established by the EU to facilitates access to the best available care and address the needs across the border of all patients affected by inherited metabolic disease (IMDs) and their families. One of the projects MetabERN members have undertaken has the goal to generate interconnectivity between IEM-patients, primary care physicians, local hospitals and the centers of expertise to prevent metabolic emergencies.
General background
To prevent catabolism and subsequent metabolic decompensation, the key measure in many inborn errors of metabolism (IEM) emergency protocols is the promotion of anabolism (1-3). Information about emergency protocols is available at multiple online resources (4-6) and scientific publications, such as for urea cycle defects...