Diseases in U-IMD
All IMDs, with no exclusion, are of interest to MetabERN. Considering the complexity of more than 1000 known IMDs rare IMDs are structured in 7 subnetworks by MetabERN.
The U-IMD registry will cover all IMD subgroups specified by MetabERN.
- Amino and organic acids-related disorders (AOA)
- Pyruvate metabolism mitochondrial oxidative phosphorylation disorders, krebs cycle defects, disorders of thiamine transport and metabolism (PM-MD)
- Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO)
- Lysosomal storage disorders (LSD)
- Peroxisomal disorders (PD)
- Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)
- Disorders of neuromodulators and other small molecules including porphyrias (NOMPS)