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Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO)


Rationale

Carbohydrate, fatty acid oxidation and ketone bodies diseases constitute a diverse group of inherited disorders playing a central role in the energy requirements of the cell. Most are characterized by hypoglycemia in relation to food intake. Hypoglycemia is one of the most common presentation of inborn errors of metabolism. Diagnostic work-up can be difficult and can require sampling at the time of a hypoglycemia. In some disorders cardiomyopathy or myopathy is a central feature. Dietary therapy and avoidance of fasting plays an important role in preventing morbidity.

Objectives

The Carbohydrate, fatty acid oxidation and ketone bodies Core Network within the 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 Core Network 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 Core Network 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 Core Network.

Coordinators

CARLO DIONISI VICI

Division of Metabolic Diseases, Department of Pediatric Medicine, Bambino Gesù Children’s Research Hospital, Rome, Italy

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Ute SPIEKERKOETTER

Medical Director of the Department of Pediatrics, Adolescent Medicine and Neonatology at the University Children’s Hospital in Freiburg, Germany

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TERRY DERKS

University of Groningen UMC Groningen, the Netherlands

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