MetabERN

Subnetworks

Inherited Metabolic Disorders (IMDs) represent a group of more than 1400 rare genetic pathologies which can differ a lot in terms of clinical presentations and course of the disease. IMDs can affect the metabolism of carbohydrates, amino acids, lipids, steroids but also nucleic acids, mitochondria and neurotransmitters.

Considering the complexity of such a setting, metabolic disorders have been divided into 7 distinct disease-specific groups, which form the foundation of MetabERN subnetworks.

This subdivision aims to enhance the expertise and efforts of healthcare professionals, ensuring optimal patient care and facilitating knowledge exchange.

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MetabERN Subnetworks

Considering the complexity of this field, inherited metabolic diseases are divided into 7 disease-specific subgroups that are the basis of MetabERN Subnetworks.
PM MD

Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism (PM-MD)

AOA

Aminoacid and organic acids related disorders (AOA)

LSD

Lysosomal storage disorders (LSD)

cfao

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

PD 1

Peroxisomal and lipid-related disorders (PD)

CDG 1

Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)

Immagini SNW 344 x 258

Disorders of neuromodulators and other small molecules (NOMS)

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