Carbohydrate, fatty acid oxidation and ketone bodies disorders
Carbohydrate, fatty acid oxidation (FAO) and ketone bodies disorders constitute a diverse group of inherited disorders that deeply impact the energy requirements of the cell. Most of these disorders are characterised by hypoglycemia following food intake.
Symptoms of carbohydrate metabolism deficits include muscular weakness, hepatomegaly, and hypotonia. Diagnosis can be challenging and may require sampling at the time of hypoglycemia. In some disorders, cardiomyopathy or myopathy can be a central feature.
Dysregulated fatty acid oxidation results in defects in energy production, mainly due to decreased reducing equivalents for oxidative phosphorylation, reduced production of acetyl-CoA, and reduction of ketone bodies. This broad spectrum of diseases may affect a variety of high-energy-requiring organ systems, such as liver, heart, skeletal muscle, and nervous system. Common signs of these disorders are hypoglycemia, hyperammonemia, liver dysfunction, retinal degeneration, and cardiomyopathy. Carriers are generally asymptomatic, even though mild biochemical abnormalities might be present. Signs and symptoms can present at any stage of life.
Management of C-FAO disorders generally involves lifestyle modifications, as there are currently no approved treatments. Dietary therapy and avoidance of fasting are then crucial in preventing complications and managing disease symptoms.
Objectives
The Carbohydrate, fatty acid oxidation and ketone bodies subnetwork within MetabERN aims to:
- gain an overview of patients with carbohydrate, fatty acid oxidation and ketone bodies disorders in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
- promote awareness towards carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU.
- facilitate the more rapid diagnosis of carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU as often a significant diagnostic delay is still present.
- improve and standardize management of carbohydrate, fatty acid oxidation and ketone bodies diseases in the EU.
- improve prospects of patients with carbohydrate, fatty acid oxidation and ketone bodies disease in the EU by initiating and contributing to research and implementation of innovative therapies.
Organizational structure
The Carbohydrate, fatty acid oxidation and ketone bodies subnetwork will consist of participating HCPs within the MetabERN with expertise in the field of carbohydrate, fatty acid oxidation and ketone bodies diseases and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of carbohydrate, fatty acid oxidation and ketone bodies diseases. Working groups will be formed to address different important topics within the field of carbohydrate, fatty acid oxidation and ketone bodies diseases.
These include:
- Prevention & Screening for carbohydrate, fatty acid oxidation and ketone bodies diseases.
- Diagnosis of (new) carbohydrate, fatty acid oxidation and ketone bodies diseases (including identification of biomarkers).
- Management of carbohydrate, fatty acid oxidation and ketone bodies diseases (development of clinical guidelines & care paths).
- Epidemiology & Outcome (participation in existing and development of new registries).
- Education and Training (development of E-learning tools, work-shops and courses).
- Virtual Counselling (for specific diseases at different HCPs with specific expertise).
- Patient Empowerment (organization of patient meetings and interaction with patient organizations).
- Research (fundamental, translational, clinical).
The executive board of the Carbohydrate, fatty acid oxidation and ketone bodies subnetwork will be formed by the chairpersons of the working groups. An advisory board (with members of patients organizations, policy makers, etc) will be appointed to monitor the different activities of the Carbohydrate, fatty acid oxidation and ketone bodies subnetwork.
Coordinators
Patient Representative
