The European Reference Network for Hereditary Metabolic Diseases (MetabERN) represents the first most comprehensive, pan-metabolic, pan-European, patient-orientated platform ever conceived worldwide, aimed to transform how care is provided to patients with inherited metabolic diseases (IMDs) in Europe. 

MetabERN represents 92 nationally certified healthcare centres from 27 European Member States and 41 Patients Organisations and is endorsed by the Society for the Inborn Errors of Metabolism (SSIEM).

All Inherited Metabolic Diseases (IMDs), with no exclusion, are of interest to MetabERN, independently from their prevalence, frequency and existing previous interest for research or therapy development.
Considering the complexity of the IMDs field as a whole, the group of more than 1000 rare inherited metabolic diseases are structured in 7 subnetworks:

1. Aminoacid and organic acids related disorders (AOA),
2. Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport/metabolism (PM-MD),
3. Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO),
4. Lysosomal storage disorders (LSD),
5. Peroxisomal and lipid-related disorders (PD),
6. Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG),
7. Disorders of neuromodulators and small molecules (NOMS).

MetabERN aims to:

• Accommodate and interconnect expertise, 
• Harmonise data collection,
• Establish approaches to optimise prevention, diagnostics, management and treatment,
• Develop and implement guidelines,
• Stimulate cross-border research and innovative treatments,
• Develop training and education opportunities,
• Interact with patients.

MetabERN will facilitate and harmonise patients’ access to diagnosis and best treatment, and design a collaborative governmental structure with patients, academia, politics, insurance companies and industry.

MetabERN

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