Emergency Protocol
What is a metabolic emergency?
Many inherited metabolic disorders (IMDs) can be complicated by acute episodes of decompensation, which might be precipitated by fasting and catabolism. The clinical signs can vary from one person to another and can include abnormal behaviour, drowsiness, vomiting or tachypnoea.
Dealing with metabolic emergencies might be a real challenge and burden for patients and their families, requiring specialised expertise and ready intervention to avoid potential complications. Recurrent metabolic decompensation is, in fact, a risk in many metabolic diseases and if an emergency occurs,the first measures are usually taken at home before seeking medical experts assistance.
Knowing how to handle such situations can make a significant difference in the well-being and safety of individuals with inherited metabolic disorders.
What is an emergency protocol?
An emergency protocol is a plan that establishes guidelines and best practices to follow in case of metabolic decompensation in patients with IMDs.
CONNECT MetabERN eHealth project has developed an online tool for patients and healthcare professionals aimed to provide some guidance for the management of such emergencies.
There, it is possible to generate personalised emergency letters for patients with the following fatty acid oxidation disorders (FAOD) and glycogen storage diseases (GSD):
- Fanconi-Bickel syndrome
- Glycogen storage disease type 0a
- Glycogen storage disease type Ia
- Glycogen storage disease type Ib
- Glycogen storage disease type III
- Glycogen storage disease type IV
- Glycogen storage disease type IXa
- Glycogen storage disease type IXb
- Glycogen storage disease type Ixc
- Medium-chaim acyl CoA dehydrogenase deficiency
- Multiple acyl-CoA dehydrogenase deficiency
- Electron transfer flavoprotein α subunit deficiency
- Electron transfer flavoprotein β subunit deficiency
- Very long-chain acyl CoA dehydrogenase deficiency
- Isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase
- Trifunctional protein α subunit deficiency
- Trifunctional protein β subunit deficiency
It is important to note that these emergency letters are not meant to replace professional metabolic guidance. It is crucial for the person generating the letter to carefully check its contents before using it.
The following details are requested to generate the protocol:
- name of the patient
- specific disease the patient has,
- patient’s weight in kg,
- language,
- possible sick-day regimen
- details of metabolic specialists and healthcare providers, and phone numbers for consultation in emergency situations
