Aminoacid and organic acid diseases constitute the oldest group of inborn errors of metabolism. Some of them are universally adopted in the newborn screening and metabolic derangement can be prevented. Other disorders present as an overwhelming intoxication disorder leading to coma in a matter of hours. Some disorders are characterized by a peculiar smell or discoloration of the urine. These diseases are readily diagnosed in metabolic centers. In some specific diseases more targeted therapy with enzyme inhibitors or supplementation of specific vitamins can obviate the need for the complex diet. However, in most of these diseases a strict dietary therapy is necessary which often includes protein restriction. Large differences of available diet therapies exist between countries in the EU.
The Aminoacid and organic acid Core Network within the MetabERN aims to:
- gain an overview of patients with aminoacid and organic acid diseases in the EU (e.g. which diseases, how many patients, clinical outcome, etc.).
- promote awareness towards aminoacid and organic acid diseases in the EU.
- facilitate the more rapid diagnosis of aminoacid and organic acid diseases in the EU as often a significant diagnostic delay is still present.
- improve and standardize management of aminoacid and organic acid diseases in the EU.
- improve prospects of patients with aminoacid and organic acid disease in the EU by initiating and contributing to research and implementation of innovative therapies.
The Aminoacid and organic acid Core Network will consist of participating HCPs within the MetabERN with expertise in the field of aminoacid and organic acid disorders and will build on or seek collaboration with existing international collaborations and networks of HCPs in the field of aminoacid and organic acid disorders. Working groups will be formed to address different important topics within the field of aminoacid and organic acid diseases.
- Prevention & Screening for aminoacid and organic acid disorders (including newborn screening).
- Diagnosis of (new) aminoacid and organic acid disorders (including identification of biomarkers).
- Management of aminoacid and organic acid disorders (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 Aminoacid and organic acid 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 Aminoacid and organic acid Core Network.