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)