Diseases in U-IMD
All IMDs, with no exclusion, are of interest to MetabERN. Considering the complexity of more than 800 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)